4.7 Review

Analyzing Modern Biomolecules: The Revolution of Nucleic-Acid Sequencing - Review

Related references

Note: Only part of the references are listed.
Review Food Science & Technology

The Concentration of Acrylamide in Different Food Products: A Global Systematic Review, Meta-Analysis, and Meta-Regression

Amin Mousavi Khaneghah et al.

Summary: This study evaluated the concentration of acrylamide in different food products using meta-analysis and discussed the impact of human development index and gross domestic product on acrylamide concentration using meta-regression analysis. The results showed that potato-based food had the highest acrylamide concentration, and liquid chromatography was the most popular analytical technique. The study also demonstrated a significant effect of socio-economic parameters on acrylamide concentration.

FOOD REVIEWS INTERNATIONAL (2022)

Article Biochemistry & Molecular Biology

Genome-wide CpG density and DNA methylation analysis method (MeDIP, RRBS, and WGBS) comparisons

Daniel Beck et al.

Summary: Genome-wide DNA methylation analysis is commonly used for genome characterization and differential DNA methylation assessment, with CpG density playing a crucial role in different molecular techniques. Observations show that most genomes have low CpG density, with MeDIP focusing on <5 CpG/100 bp regions and RRBS identifying higher CpG density areas.

EPIGENETICS (2022)

Review Biochemistry & Molecular Biology

Epigenetics: A New Frontier in Probiotic Research

Wesley Morovic et al.

Summary: Research on probiotics has advanced to identifying molecular mechanisms, with health-promoting molecules linked to specific genes. The factors controlling the expression of these molecules are poorly understood, suggesting epigenetic influences may play a role. Combining genomic and meta-epigenomic data is recommended for a better understanding of probiotics and their effects.

TRENDS IN MICROBIOLOGY (2021)

Review Biochemistry & Molecular Biology

Conserved DNA Methyltransferases: A Window into Fundamental Mechanisms of Epigenetic Regulation in Bacteria

Pedro H. Oliveira et al.

Summary: Bacterial DNA methylation plays crucial roles in affecting clinically relevant phenotypes beyond the restriction-modification systems. Highly conserved DNA methyltransferases (MTases) present a unique opportunity for bacterial epigenomic studies, including functional characterization and potential development of novel epigenetic inhibitors for biomedical applications. Further research in this area could lead to a more comprehensive understanding of the impact of DNA methylation on bacterial virulence and host-pathogen interactions.

TRENDS IN MICROBIOLOGY (2021)

Article Gastroenterology & Hepatology

Dissecting transcriptional heterogeneity in primary gastric adenocarcinoma by single cell RNA sequencing

Min Zhang et al.

Summary: This study utilized single-cell RNA sequencing to uncover molecular and cellular heterogeneity in gastric adenocarcinoma, identifying different cell subgroups with diverse differentiation degrees that may predict prognosis. Some subgroups corresponded to histopathological features, while others exhibited unique transcriptome profiles. Additionally, evidence was provided for potential transition from gastric chief cells into metaplasia expressing spasmolytic polypeptides.
Article Biochemical Research Methods

PBSIM2: a simulator for long-read sequencers with a novel generative model of quality scores

Yukiteru Ono et al.

Summary: Researchers introduced a new generative model for quality scores to capture characteristics of errors in reads for long-read sequencers, and evaluated that their simulator successfully simulates reads consistent with real reads.

BIOINFORMATICS (2021)

Article Chemistry, Multidisciplinary

Robust Storage of Chinese Language in a Pool of Small Single-Stranded DNA Rings and Its Facile Reading-Out

Chenru Wang et al.

Summary: In this study, a simple and eminent DNA-based storage system utilizing small DNA rings as memory units was developed, offering advantages such as robustness and low cost compared to previous approaches.

BULLETIN OF THE CHEMICAL SOCIETY OF JAPAN (2021)

Review Biotechnology & Applied Microbiology

Uncovering an Organ's Molecular Architecture at Single-Cell Resolution by Spatially Resolved Transcriptomics

Jie Liao et al.

Summary: Spatially resolved transcriptomics techniques provide near-single-cell or even subcellular resolution within tissues, revealing fine-scale cellular heterogeneity and the functional and structural foundations of tissue architecture. Mapping the whole 3D transcriptional landscape of tissues with position-coordinating labels enables massive information across higher dimensions.

TRENDS IN BIOTECHNOLOGY (2021)

Review Biology

Discovering Cellular Mitochondrial Heteroplasmy Heterogeneity with Single Cell RNA and ATAC Sequencing

Aidan S. Marshall et al.

Summary: Mitochondria, the powerhouse of the cell, exist in multiple copies in almost every cell, each with its own mtDNA. Mutations in mtDNA can lead to cell dysfunction and disease. Heteroplasmy, a state where cells harbor both wild type and variant mtDNA, can arise through inheritance or mutations throughout life.

BIOLOGY-BASEL (2021)

Article Plant Sciences

Genomic Profiling of Virulence in the Soybean Cyst Nematode Using Single-Nematode Sequencing

Dave T. Ste-Croix et al.

Summary: This study used a nematode-adapted single-cell RNA-seq approach to identify SCN genes potentially involved in resistance breakdown in soybean. The selection of virulent SCN individuals led to profound transcriptome changes in Peking, while virulent individuals on PI 88788 showed a different virulence strategy.

PHYTOPATHOLOGY (2021)

Editorial Material Biotechnology & Applied Microbiology

Defining how microorganisms benefit human health

Maria L. Marco

Summary: The appreciation for how microorganisms can benefit human health has grown over the past century. The future of this research will focus on identifying specific microbial enzymatic pathways and molecules necessary for health promotion, to prevent and treat non-communicable diseases which are now the leading causes of death worldwide.

MICROBIAL BIOTECHNOLOGY (2021)

Article Cell Biology

Phenotyping of immune and endometrial epithelial cells in endometrial carcinomas revealed by single-cell RNA sequencing

Yu-e Guo et al.

Summary: This study identified multiple cell types in endometrial carcinoma, including distinct CD8(+) T cell states and different monocyte-macrophage populations, with exhausted CD8(+) T cells and macrophages enriched in tumors. Endometrial epithelial cells were classified into stem-like cells, secretory glandular cells, and ciliated cells. The study provides a detailed single-cell resolution view of endometrial carcinoma, showcasing the characteristics of endometrial epithelial cells and the cellular landscape of the tumor immune microenvironment.

AGING-US (2021)

Review Biotechnology & Applied Microbiology

CRISPR-based enrichment strategies for targeted sequencing

Zachary Schultzhaus et al.

Summary: The ease of producing or acquiring sequencing data has increased, but the complexity of sequence analysis remains a hurdle. Utilizing CRISPR technology for nucleic acid enrichment offers a promising approach to simplify sequencing processes and expand applications.

BIOTECHNOLOGY ADVANCES (2021)

Article Biology

DNA methyltransferase 3a mediates developmental thermal plasticity

Isabella Loughland et al.

Summary: The study reveals that DNMT3a plays a key role in regulating developmental thermal plasticity, and the phenotypic effects of different DNMT3a isoforms are additive. However, DNMT3a interacts with other mechanisms, such as histone (de)acetylation, induced during short-term acclimation to buffer phenotypes from environmental change. These interactions make phenotypic compensation for climate change more efficient.

BMC BIOLOGY (2021)

Review Biochemical Research Methods

Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities

Matteo Chiara et al.

Summary: Various NGS-based strategies have been used to trace infectious agent origins and develop molecular diagnostic tests. The ongoing COVID-19 pandemic has caused severe societal and economic costs, emphasizing the importance of efficient sequencing methods. However, different technologies and approaches have their own advantages and limitations, highlighting the need for better integration and sharing of data.

BRIEFINGS IN BIOINFORMATICS (2021)

Review Genetics & Heredity

Towards a comprehensive view of 8-oxo-7,8-dihydro-2 '-deoxyguanosine: Highlighting the intertwined roles of DNA damage and epigenetics in genomic instability

Francesca Gorini et al.

Summary: 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) is a major product of DNA oxidation, prone to mispair during replication and associated with genome instability and cancer. Recent studies have also highlighted its role in epigenetic regulation of gene expression. Despite extensive genome-wide mapping studies, a comprehensive understanding of the epigenetic and mutagenic nature of 8-oxodG is still lacking.

DNA REPAIR (2021)

Article Biochemistry & Molecular Biology

Application of 5-Methylcytosine DNA Glycosylase to the Quantitative Analysis of DNA Methylation

Woo Lee Choi et al.

Summary: DNA methylation plays a crucial role in higher eukaryotes, and the DME-qPCR method is proven to be an effective way to measure DNA methylation levels. Research shows that DME-qPCR can successfully distinguish different DNA methylated epialleles.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Immunology

The current landscape of single-cell transcriptomics for cancer immunotherapy

Puneeth Guruprasad et al.

Summary: Emerging single-cell RNA sequencing technologies provide unprecedented insights into the genetic makeup of tumors and immune cells, allowing for a deeper understanding of their roles and interactions during immunotherapy. This knowledge is crucial for identifying new therapeutic targets and improving the efficacy of immunotherapies.

JOURNAL OF EXPERIMENTAL MEDICINE (2021)

Review Biochemistry & Molecular Biology

Single-Cell Transcriptome Analysis in Plants: Advances and Challenges

Rahul Shaw et al.

Summary: The adoption of single-cell RNA sequencing technology has revolutionized the transcriptome analysis, allowing for better understanding of tissue and cellular heterogeneity and rapid identification of rare cell types. In the field of plant sciences, single-cell transcriptome profiling is in its early stages and presents exciting challenges to overcome.

MOLECULAR PLANT (2021)

Review Neurosciences

Single-Cell Sequencing of Brain Cell Transcriptomes and Epigenomes

Ethan J. Armand et al.

Summary: Single-cell sequencing technologies provide insights into the diversity and developmental relationships of brain cell types, aiding in the design of tools for targeted functional studies of brain circuit components.

NEURON (2021)

Article Biochemistry & Molecular Biology

CooIMPS for robust sequencing of single-nuclear RNAs captured by droplet-based method

Oliver Hahn et al.

Summary: The study introduces a low-cost and off-the-shelf protocol to chemically convert libraries generated with the Chromium 10X technology for sequencing with CooIMPS. By sequencing a snRNA-seq dataset from the hippocampus of mice, it was found that CooIMPS is a viable alternative for accurately replicating key characteristics and detecting gene expression differences.

NUCLEIC ACIDS RESEARCH (2021)

Article Plant Sciences

Recent Advances in Population Genomics of Plant-Parasitic Nematodes

Josselin Montarry et al.

Summary: Plant-parasitic nematodes are a significant burden on crop production, and population genetics plays a key role in understanding their life strategies. Advances in high-throughput sequencing technologies have facilitated rapid development in genomic analyses of plant-parasitic nematodes.

PHYTOPATHOLOGY (2021)

Article Multidisciplinary Sciences

Detection of aberrant splicing events in RNA-seq data using FRASER

Christian Mertes et al.

Summary: Aberrant splicing is a major contributor to rare diseases, and RNA sequencing data can improve detection accuracy. The FRASER algorithm captures aberrant splicing and intron retention events, and has been successfully applied to diagnosis in mitochondrial disease.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

isoCirc catalogs full-length circular RNA isoforms in human transcriptomes

Ruijiao Xin et al.

Summary: isoCirc is a strategy for sequencing full-length circRNA isoforms, providing a comprehensive catalog of circRNA isoforms and identifying widespread alternative splicing events within circRNAs. This strategy and resource offer valuable insights for studying circRNAs in human transcriptomes.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Potentiality of multiple modalities for single-cell analyses to evaluate the tumor microenvironment in clinical specimens

Yukie Kashima et al.

Summary: This study revealed that scRNA-seq analysis is a highly-feasible platform for elucidating the complexity of tumor microenvironment in small biopsy tumors, offering novel strategies to tackle therapeutic challenges against cancer heterogeneity in TME.

SCIENTIFIC REPORTS (2021)

Article Multidisciplinary Sciences

Comprehensive analysis of metastatic gastric cancer tumour cells using single-cell RNA-seq

Bin Wang et al.

Summary: Using single-cell RNA-seq, this study revealed significant intratumoural heterogeneity in gastric cancer patients, as well as a subgroup of cells in a transition state during the metastatic process. Additionally, several GC lymph node metastasis marker genes were identified, providing potential targets for GC treatment.

SCIENTIFIC REPORTS (2021)

Article Genetics & Heredity

Real-Time Culture-Independent Microbial Profiling Onboard the International Space Station Using Nanopore Sequencing

Sarah Stahl-Rommel et al.

Summary: A culture-independent swab-to-sequencer method for real-time microbial profiling on the ISS has been developed, validated, and implemented successfully. Extensive ground-based assessments and analog testing during NEEMO missions confirmed the accuracy of the method. Four independent experiments on the ISS showed consistent results with historical culture-based data, demonstrating the potential of this simplified method for future space missions.

GENES (2021)

Review Biology

Streamlining data-intensive biology with workflow systems

Taylor Reiter et al.

Summary: With the increasing scale of biological data generation, the bottleneck of research has shifted from data generation to analysis. Data-centric workflow systems are reshaping the landscape of biological data analysis, empowering researchers to conduct reproducible analyses at scale, but knowledge of these techniques is still lacking.

GIGASCIENCE (2021)

Review Multidisciplinary Sciences

Machine learning in plant science and plant breeding

Aalt Dirk Jan van Dijk et al.

Summary: Machine learning has been widely applied in plant science and breeding to extract meaningful patterns from large, complex plant data sets, particularly in connecting genotypes to different levels of phenotypes such as biochemical traits and yield.

ISCIENCE (2021)

Article Clinical Neurology

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Olivia V. Poole et al.

Summary: The expanding catalog of neurogenetic disorders has led to a shift towards early clinical whole exome sequencing (WES). By reanalyzing exomes enriched with neurological diseases, pathogenic mtDNA variants were identified which resulted in diagnostic improvements in neurological diseases.

ANNALS OF NEUROLOGY (2021)

Review Immunology

Insights Gained from Single-Cell Analysis of Immune Cells in the Tumor Microenvironment

Xianwen Ren et al.

Summary: This review discusses the advances in understanding tumor immune microenvironments using single-cell RNA sequencing, focusing on the biology of tumor-infiltrating immune cells and their potential roles in disease progression and immunotherapy response. It also addresses emerging questions from scRNA-seq studies and potential solutions on the horizon.

ANNUAL REVIEW OF IMMUNOLOGY, VOL 39 (2021)

Article Oncology

Pan-Cancer Analysis of Ligand-Receptor Cross-talk in the Tumor Microenvironment

Umesh Ghoshdastider et al.

Summary: This study deconvoluted bulk tumor transcriptomes across multiple cancer types to infer cross-talk in the tumor microenvironment. The results show that signaling between cancer and stromal cells varies between tissues, and there are high levels of interactions at immune checkpoints across different tumor types.

CANCER RESEARCH (2021)

Article Biochemistry & Molecular Biology

A pan-cancer single-cell transcriptional atlas of tumor infiltrating myeloid cells

Sijin Cheng et al.

Summary: This study conducted a pan-cancer analysis of single myeloid cells from 210 patients across 15 human cancer types, revealing distinct features of TIMs in different cancer types. For example, mast cells in nasopharyngeal cancer were associated with better prognosis, and pro-angiogenic TAMs showed diverse markers across different cancer types. The composition of TIMs appeared to be linked with certain features of somatic mutations and gene expressions.
Review Biochemistry & Molecular Biology

Genetic basis of mitochondrial diseases

Mirjana Gusic et al.

Summary: Mitochondrial disorders are caused by pathogenic variants in over 340 different genes, while whole-exome sequencing has revolutionized their diagnosis. However, the genetic etiology of a substantial fraction of patients with mitochondrial disorders remains unknown, calling for improvements in variant detection and interpretation methods.

FEBS LETTERS (2021)

Article Biochemistry & Molecular Biology

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

Ghausia Begum et al.

Summary: The emergence of long-read sequencing technology provides a new method for detecting genomic structural variations in rare genetic diseases, particularly in conditions like autism spectrum disorders where pathogenic variants may be found in non-coding regions. Long-read sequencing detected a significantly higher number of SVs compared to short-read sequencing, particularly impacting genes within the 1-100kb size range.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Microbiology

Prokaryotic DNA methylation and its functional roles

Hoon Je Seong et al.

Summary: DNA methylation is a key epigenetic regulator in prokaryotes, playing important roles in regulating host defense systems, cell cycles, gene expression, and virulence. Recent advances in sequencing techniques have allowed for the characterization of genome-wide epigenetic regulation in prokaryotes.

JOURNAL OF MICROBIOLOGY (2021)

Editorial Material Microbiology

Omics-based microbiome analysis in microbial ecology: from sequences to information

Jang-Cheon Cho

Summary: Microbial ecology is the study of microorganisms and their interactions with biota and environments in nature. The field is currently experiencing a golden age with innovative multi-omics methods, but extracting ecologically relevant information from omics data remains a challenging task. This special issue provides an overview of omics-based approaches in microbial ecology, focusing on data interpretation, environmental pollution tracking, microbiome interactions, and viral ecology.

JOURNAL OF MICROBIOLOGY (2021)

Review Oncology

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

Charlotte L. Alston et al.

Summary: Mitochondria play essential roles in metabolism, with mitochondrial diseases clinically diverse and genetically heterogeneous. Genetic diagnosis is crucial for genetic counselling and reproductive options, with next-generation sequencing and multi-omics approaches revolutionizing mitochondrial diagnostics. Patient tissues and integrated multi-omics approach are pivotal for understanding molecular mechanisms in challenging cases.

JOURNAL OF PATHOLOGY (2021)

Review Plant Sciences

Integrating multi-omics data for crop improvement

Federico Scossa et al.

Summary: Our agricultural systems are facing the urgent challenge of feeding a growing global population, requiring a better understanding of plant genetic and phenotypic diversity. Recent advances in plant genomics, combined with molecular profiling approaches such as genomics, transcriptomics, and metabolomics, offer insights into the complex architecture of agricultural traits and guide crop breeding strategies.

JOURNAL OF PLANT PHYSIOLOGY (2021)

Review Clinical Neurology

Applying genomic and transcriptomic advances to mitochondrial medicine

William L. Macken et al.

Summary: This article discusses the current genetic testing approach for primary mitochondrial diseases and the opportunities for increased use of whole-genome NGS. It also explores the expanding applications of RNA sequencing.

NATURE REVIEWS NEUROLOGY (2021)

Article Pharmacology & Pharmacy

Potential of whole-genome sequencing-based pharmacogenetic profiling

Sylvan Manuel Caspar et al.

Summary: Pharmacogenetics plays a key role in personalized medicine, with whole-genome sequencing offering a more comprehensive approach to pharmacogenetic profiling. Short-read next-generation sequencing has limitations, and there may be a shift towards long-read sequencing for improved gene diagnostics and pharmacogenetic profiling in the future.

PHARMACOGENOMICS (2021)

Review Cell Biology

Mechanical Regulation of Transcription: Recent Advances

Kaustubh Wagh et al.

Summary: Mechanotransduction is a crucial mechanism for cells to sense and respond to mechanical signals, playing a key role in cancer progression. Further research is needed to elucidate the link between mechanical stimuli and gene expression.

TRENDS IN CELL BIOLOGY (2021)

Correction Multidisciplinary Sciences

Error correction enables use of Oxford Nanopore technology for reference-free transcriptome analysis (vol 12, 2, 2021)

Kristoffer Sahlin et al.

Summary: The correction to the paper has been published at https://doi.org/10.1038/s41467-021-21424-9.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Inference and analysis of cell-cell communication using CellChat

Suoqin Jin et al.

Summary: By constructing an interaction database and developing the tool CellChat, the authors quantitatively inferred and analyzed cell-cell communication networks, revealing important signaling inputs and outputs between cells, and achieved classification of conserved and context-specific pathways.

NATURE COMMUNICATIONS (2021)

Review Microbiology

Evolution of Drug-Resistant Mycobacterium tuberculosis Strains and Their Adaptation to the Human Lung Environment

Anna Allue-Guardia et al.

Summary: In the past two decades, drug-resistant strains of Mycobacterium tuberculosis have emerged as a global public health threat, leading to the need for new strategies for tuberculosis prevention and treatment. The evolution of drug-resistant M.tb depends on factors such as bacterial fitness, genetic background, and adaptation to the environment, as well as host-specific and environmental factors. Whole-genome transcriptomics and genome-wide association studies have provided insights into the complexity of M.tb drug resistance and its underlying molecular mechanisms.

FRONTIERS IN MICROBIOLOGY (2021)

Review Immunology

Lymphoma Heterogeneity Unraveled by Single-Cell Transcriptomics

Loic Ysebaert et al.

Summary: High-definition transcriptomic studies using single-cell RNA sequencing have provided insights into cellular heterogeneity and functionality in solid tumors, offering valuable information for clinical response to immune checkpoint inhibitors. This technology also has the potential to uncover the intricate heterogeneity of ecosystems in different lymphoma entities.

FRONTIERS IN IMMUNOLOGY (2021)

Review Immunology

Single-Cell Profiling to Explore Immunological Heterogeneity of Tumor Microenvironment in Breast Cancer

Xiao Yuan et al.

Summary: Immune infiltrates in the tumor microenvironment of breast cancer have a critical role in tumorigenesis, progression, invasion, and therapy resistance, but intratumoral heterogeneity is a major obstacle in understanding and treating breast cancer. Recent advances in single-cell technologies have enabled detailed characterization of intratumoral immune cells, providing insights into the diverse phenotypical and functional aspects of tumor-infiltrating immune cells.

FRONTIERS IN IMMUNOLOGY (2021)

Review Genetics & Heredity

Genomics Armed With Diversity Leads the Way in Brassica Improvement in a Changing Global Environment

Nur Shuhadah Mohd Saad et al.

Summary: Breeders face the challenge of meeting the demands of a growing world population amidst imminent climate change. Utilizing genetic diversity and genomic tools is crucial for developing resilient Brassica crops, while genomic advancements provide insights into crop evolution, breeding histories, and desired agronomic traits. The multidisciplinary approach of plant breeding, incorporating genotype-environment-management interactions, ensures the selection of Brassica varieties ready for climate change.

FRONTIERS IN GENETICS (2021)

Review Oncology

Dive into Single, Seek Out Multiple: Probing Cancer Metastases via Single-Cell Sequencing and Imaging Techniques

Shang Su et al.

Summary: Metastasis remains the greatest challenge in both clinical practice and laboratory research due to the intrinsic heterogeneity of primary and metastatic tumor populations and the complex interactions among cancer cells and cells in the tumor microenvironment. Single-cell technologies, including sequencing and imaging approaches, have provided valuable insights into the spatiotemporal dynamics of cancer metastasis, leading to potential clinical applications in therapeutic interventions.

CANCERS (2021)

Review Oncology

Immune-Related Mutational Landscape and Gene Signatures: Prognostic Value and Therapeutic Impact for Head and Neck Cancer

Bohai Feng et al.

Summary: Immunotherapy plays a crucial role in treating head and neck cancer, but only a small subset of patients benefit in the long term. Utilizing multi-omics data to understand the immune microenvironment allows for a more precise and effective application of immunotherapy.

CANCERS (2021)

Review Oncology

Progress and Clinical Application of Single-Cell Transcriptional Sequencing Technology in Cancer Research

Jian Liu et al.

Summary: Single-cell transcriptional sequencing (scRNA-seq) has been widely used in cancer research and has made breakthrough discoveries in tumor heterogeneity, evolution, and chemoresistance development. These findings will guide clinical cancer treatment and promote the development of personalized and highly accurate treatment methods.

FRONTIERS IN ONCOLOGY (2021)

Review Biochemistry & Molecular Biology

Epigenetics of Alzheimer's Disease

Matea Nikolac Perkovic et al.

Summary: Validated biomarkers for accurately diagnosing Alzheimer's disease (AD) are currently lacking, but epigenetic modifications have been identified as important factors in the pathogenesis of AD. DNA methylation, hydroxymethylation, histone modifications, and non-coding RNA regulation play critical roles in the development of AD, while mitochondrial DNA may serve as a potential biomarker for AD.

BIOMOLECULES (2021)

Article Biochemistry & Molecular Biology

Single-Cell Gene Network Analysis and Transcriptional Landscape of MYCN-Amplified Neuroblastoma Cell Lines

Daniele Mercatelli et al.

Summary: The study investigated two cell lines, BE2C and Kelly, of neuroblastoma, showing distinct transcriptional network activities with BE2C having more mesenchymal characteristics compared to Kelly. Single-cell data revealed that MYCN is not constantly active in these cells, and highlighted higher variance in metallothionein transcripts in Kelly cells.

BIOMOLECULES (2021)

Article Plant Sciences

DNA Modification Patterns within the Transposable Elements of the Fig (Ficus carica L.) Genome

Gabriele Usai et al.

Summary: This study revealed unconventional DNA modification patterns in fig transposable elements, with differences in modification rates among different transposon lineages. The unconventional methylation of retrotransposons was found to be unrelated to the number of close genes.

PLANTS-BASEL (2021)

Review Health Care Sciences & Services

Recent Advances in Integrative Multi-Omics Research in Breast and Ovarian Cancer

Christen A. Khella et al.

Summary: The molecular heterogeneity of cancer leads to varied disease progression and clinical outcomes. Advances in high-throughput proteogenomic profiling have identified new oncogenic drivers and biomarkers for predicting drug sensitivity, contributing to the development of more effective treatment strategies.

JOURNAL OF PERSONALIZED MEDICINE (2021)

Review Biochemistry & Molecular Biology

Unlocking immune-mediated disease mechanisms with transcriptomics

Emma de Jong et al.

Summary: The transcriptome represents the total set of RNA transcripts expressed in a cell, providing a comprehensive view of functional cellular states. Recent technological advancements now allow for the study of the transcriptome at the resolution of individual cells, offering exciting opportunities to characterize cellular and molecular events underlying immune-mediated diseases. Advanced bioinformatics tools can be utilized to extract mechanistic insight and disease biology from bulk and single-cell transcriptomic profiles.

BIOCHEMICAL SOCIETY TRANSACTIONS (2021)

Article Biotechnology & Applied Microbiology

Long-read metagenomics retrieves complete single-contig bacterial genomes from canine feces

Anna Cusco et al.

Summary: Long-read sequencing in metagenomics allows for the assembly of complete genomes from complex microbial communities, providing important biological information that is often missed by short-read sequencing. In this study, long-read metagenomics with Nanopore sequencing successfully retrieved eight high-quality metagenome-assembled genomes (HQ MAGs) from a dog fecal sample, including crucial ribosomal genes and tRNAs. Additionally, high-molecular-weight DNA extraction improved assembly contiguity and recovery of rRNA operons, demonstrating the significance of long reads in metagenomics research.

BMC GENOMICS (2021)

Article Biotechnology & Applied Microbiology

Improving protein domain classification for third-generation sequencing reads using deep learning

Nan Du et al.

Summary: ProDOMA is a deep learning model that performs protein domain classification for TGS reads, outperforming HMMER and DeepFam. The model uses deep neural networks with 3-frame translation encoding to learn conserved features from partially correct translations and formulates the problem as an open-set problem, allowing it to reject reads not containing the targeted domains.

BMC GENOMICS (2021)

Article Biotechnology & Applied Microbiology

Hybrid genome de novo assembly with methylome analysis of the anaerobic thermophilic subsurface bacterium Thermanaerosceptrum fracticalcis strain DRI-13T

Trevor R. Murphy et al.

Summary: The study successfully generated a circular genome and corresponding methylome profile of Thermanaerosceptrum fracticalcis strain DRI-13(T) using de novo hybrid assembly. The analysis revealed insights into energy conservation, novel bacterial prophages, methylation profile, and a putative core of bacteriophage exclusion genes, shedding light on how the microorganism survives in extreme subsurface environments.

BMC GENOMICS (2021)

Review Biochemistry & Molecular Biology

Employing core regulatory circuits to define cell identity

Nathalia Almeida et al.

Summary: The interplay between extrinsic signaling and downstream gene networks controls cell identity, with transcription factor networks considered key determinants. The concept of the core regulatory circuit is proposed as a comprehensive framework for defining cellular identity and its connection to cell function in different contexts is discussed.

EMBO JOURNAL (2021)

Article Genetics & Heredity

Benchmarking deep learning splice prediction tools using functional splice assays

Tabea V. Riepe et al.

Summary: Hereditary disorders are often caused by genetic variants affecting RNA splicing, but predicting the pathogenicity of variants in noncanonical splice sites and deep intronic regions is challenging. A study comparing splice prediction tools on variants in two genes found that SpliceRover and SpliceAI performed the best.

HUMAN MUTATION (2021)

Article Food Science & Technology

Evaluation of nanopore sequencing technology to identify Salmonella enterica Choleraesuis var. Kunzendorf and Orion var. 15+, 34+

Feng Xu et al.

Summary: The study evaluated nanopore sequencing and additional data analysis for successfully identifying Salmonella serotypes, finding the best workflow that enhances ONT's readiness as a subtyping and source tracking tool for the food industry applications.

INTERNATIONAL JOURNAL OF FOOD MICROBIOLOGY (2021)

Review Biochemistry & Molecular Biology

Single-Cell Transcriptomics Supports a Role of CHD8 in Autism

Anke Hoffmann et al.

Summary: CHD8 is a highly mutated gene in individuals with autism spectrum disorder, leading to symptoms such as autism, macrocephaly, and facial dysmorphisms. Understanding the molecular and cellular mechanisms underlying these symptoms is crucial for developing more effective therapies. Recent insights from high-throughput single-cell RNA sequencing studies on CRISPR/Cas9-edited Chd8/CHD8 provide valuable information on the E/I balance in cortical and subcortical circuits in ASD, showcasing the potential of these transformative techniques for future research.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Biochemistry & Molecular Biology

Gastric Cancer: Advances in Carcinogenesis Research and New Therapeutic Strategies

Lornella Seeneevassen et al.

Summary: Gastric cancer poses a significant global health issue due to its high incidence, poor prognosis, and cellular and molecular heterogeneity. Recent scientific advances have focused on understanding the different factors involved in gastric carcinogenesis, such as Helicobacter pylori, cancer stem cells, tumor microenvironment, and microbiota. Additionally, research has explored new potential biomarkers and emerging therapeutic strategies, including targeting cancer stem cells and immunotherapy, to combat cancer relapse, metastasis, and poor prognosis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Microbiology

Investigation of Burkholderia cepacia Complex Methylomes via Single-Molecule, Real-Time Sequencing and Mutant Analysis

Olga Mannweiler et al.

Summary: DNA methylation in bacteria plays a crucial role in regulating various phenotypic traits, maintaining lysogeny of bacteriophages, and preserving virulence megaplasmids.

JOURNAL OF BACTERIOLOGY (2021)

Article Biochemistry & Molecular Biology

Opportunities and challenges for high-quality biodiversity tissue archives in the age of long-read sequencing

Mozes P. K. Blom

Summary: Modern technologies for characterizing genetic variation at a genome-wide scale offer unprecedented opportunities for studying genetic underpinnings and evolutionary mechanisms that promote and sustain biodiversity. Transitioning from short- to long-read sequencing allows a more comprehensive understanding of genetic diversity over time and space. However, the success of long-read sequencing depends heavily on the integrity of DNA molecules, making the availability of high-quality tissue samples a major concern for projects.

MOLECULAR ECOLOGY (2021)

Article Biochemistry & Molecular Biology

Integrated intra- and intercellular signaling knowledge for multicellular omics analysis

Denes Tuerei et al.

Summary: Molecular knowledge of biological processes is crucial for omics data analysis, with OmniPath providing a comprehensive resource for researchers to access information on both intracellular and intercellular processes. This resource facilitates the study of cell-cell interactions and downstream signaling processes, demonstrated in applications investigating SARS-CoV-2 infection and ulcerative colitis.

MOLECULAR SYSTEMS BIOLOGY (2021)

Review Biochemistry & Molecular Biology

From Oncogenic Signaling Pathways to Single-Cell Sequencing of Immune Cells: Changing the Landscape of Cancer Immunotherapy

Afshin Derakhshani et al.

Summary: In the past decade, significant advances have been made in understanding the signaling pathways involved in cancer development, shedding light on potential factors contributing to cancer progression. Single-cell sequencing has revealed genetic instability and intra-tumoral heterogeneity in tumor cells, explaining why current approaches may not be effective in eradicating mutating cancer cells.

MOLECULES (2021)

Article Biochemical Research Methods

Discovering multiple types of DNA methylation from bacteria and microbiome using nanopore sequencing

Alan Tourancheau et al.

Summary: In this study, a tool named nanodisco was developed to successfully apply nanopore sequencing for broadly applicable DNA methylation discovery and reliable methylation detection in bacteria and mouse gut microbiome. Furthermore, the application of DNA methylation for binning metagenomic contigs, associating mobile genetic elements with their host genomes, and identifying misassembled metagenomic contigs was demonstrated.

NATURE METHODS (2021)

Review Microbiology

Examining horizontal gene transfer in microbial communities

Iiana Lauren Brito

Summary: The Review discusses the impact of horizontal gene transfer on natural microbial communities and explores the application of new technologies in studying the ecology of HGT, as well as deepening our understanding of gene transfer.

NATURE REVIEWS MICROBIOLOGY (2021)

Article Biochemistry & Molecular Biology

Single-molecule optical mapping of the distribution of DNA phosphorothioate epigenetics

Yue Wei et al.

Summary: DNA phosphorothioate (PT) modifications, governed by specific proteins, exhibit a highly unusual distribution across individual DNA molecules. Single-molecule studies have shown that the PT profiles vary significantly among different molecules, providing new insights into the relationship between PT modifications and restriction components.

NUCLEIC ACIDS RESEARCH (2021)

Review Immunology

Understanding mast cell heterogeneity at single cell resolution

Gokhan Cildir et al.

Summary: Mast cells are tissue-resident immune cells with diverse roles in various health conditions, and recent advancements in single-cell technologies have allowed for a better understanding of their development and functional characteristics. These new insights may pave the way for future research directions and therapeutic opportunities in targeting mast cell heterogeneity.

TRENDS IN IMMUNOLOGY (2021)

Review Pharmacology & Pharmacy

RNA Dysregulation: An Expanding Source of Cancer Immunotherapy Targets

Yang Pan et al.

Summary: Recent advances in high-throughput technologies and rapid accumulation of multiomic cancer profiling data in public repositories have provided opportunities to systematically characterize RNA dysregulation in cancer and identify antigen targets for immunotherapy. However, important conceptual and technological challenges exist due to the complexity of cancer transcriptomes and proteomes.

TRENDS IN PHARMACOLOGICAL SCIENCES (2021)

Review Environmental Sciences

Epigenetic insight into regulatory role of chromatin covalent modifications in lifecycle and virulence of Phytophthora

Fernando Uriel Rojas-Rojas et al.

Summary: The article discusses the adaptive lifestyle and molecular mechanisms of the phytopathogenic genus Phytophthora in different hosts and environmental changes, emphasizing the potential role of chromatin covalent modifications in this process.

ENVIRONMENTAL MICROBIOLOGY REPORTS (2021)

Review Biotechnology & Applied Microbiology

Single-Cell Sequencing, an Advanced Technology in Lung Cancer Research

Hao Wang et al.

Summary: Single-cell sequencing is an advanced technique with high resolution, applied in lung cancer research to investigate various issues. Some achievements have been made in the research.

ONCOTARGETS AND THERAPY (2021)

Article Genetics & Heredity

Social epigenomics: are we at an impasse?

Amy L. Non

Summary: The study of social epigenomics has high expectations in explaining the influence of adverse social factors on complex diseases, but faces challenges such as lack of diversity in samples and difficulty in data interpretation. Recommendations for future development include diverse sample types, more collaborative efforts, and enhanced data integration and sharing.

EPIGENOMICS (2021)

Article Multidisciplinary Sciences

scGNN is a novel graph neural network framework for single-cell RNA-Seq analyses

Juexin Wang et al.

Summary: Single-cell RNA-Seq faces challenges such as sparsity in sequencing and complex patterns in gene expression. The introduction of a graph neural network based on a hypothesis-free deep learning framework provides an effective representation of gene expression and cell-cell relationships.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Connecting structure to function with the recovery of over 1000 high-quality metagenome-assembled genomes from activated sludge using long-read sequencing

Caitlin M. Singleton et al.

Summary: By using sequencing data and other techniques, we recovered a large number of high-quality microbial genome assemblies, unveiling abundant undescribed lineages belonging to important functional groups in wastewater treatment plants.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Methylation analysis of Klebsiella pneumoniae from Portuguese hospitals

Anton Spadar et al.

Summary: Klebsiella pneumoniae is a significant nosocomial infectious agent with high antimicrobial resistance. Utilizing long read sequencing technologies has provided insights into bacterial chromosomal and putative extra-chromosomal genetic elements associated with antimicrobial resistance, as well as epigenetic DNA methylation. This study identified methylation motifs controlling Restriction-Modification systems in K. pneumoniae genomes.

SCIENTIFIC REPORTS (2021)

Article Multidisciplinary Sciences

Selection of nitrogen responsive root architectural traits in spinach using machine learning and genetic correlations

Henry O. Awika et al.

Summary: This study used machine learning to investigate the impact of nitrogen treatments on spinach root architecture and biomass, proposing a strategy for selecting plant root traits to optimize nitrogen use efficiency.

SCIENTIFIC REPORTS (2021)

Review Plant Sciences

Systems biology for crop improvement

Lekha T. Pazhamala et al.

Summary: The generation of large-scale data from various omics levels in plant species has become routine, but the independent study of datasets in different crop species has hindered a comprehensive understanding of complex traits. A systems biology approach with integration of multiple omics data and modeling is crucial for understanding the flow of biological information underlying complex traits and biological networks. This approach allows a holistic understanding of dynamic systems and interactions with the external environment in phenotypic expression.

PLANT GENOME (2021)

Review Microbiology

Novel Identification of Bacterial Epigenetic Regulations Would Benefit From a Better Exploitation of Methylomic Data

Amaury Payelleville et al.

Summary: This article discusses the role of DNA methylation in bacterial phenotypic heterogeneity, mentioning the use of powerful sequencing tools and the future emphasis on the use of methylomic data.

FRONTIERS IN MICROBIOLOGY (2021)

Article Microbiology

High Diversity and Functional Potential of Undescribed Acidobacteriota in Danish Wastewater Treatment Plants

Jannie Munk Kristensen et al.

Summary: Microbial communities in Danish full-scale activated sludge wastewater treatment plants are rich in Acidobacteriota taxa, which show high metabolic diversity and potential involvement in nitrogen and phosphorus removal and iron reduction. Genome annotation and metabolic reconstruction of Acidobacteriota metagenome-assembled genomes reveal their potential to be polyphosphate-accumulating organisms (PAOs) with intracellular storage of key compounds.

FRONTIERS IN MICROBIOLOGY (2021)

Review Plant Sciences

Opening the Treasure Chest: The Current Status of Research on Brassica oleracea and B. rapa Vegetables From ex situ Germplasm Collections

Katja Witzel et al.

Summary: The utilization of germplasm resources is crucial for breeders and researchers, especially in the face of climate change and stagnant crop production. By identifying and utilizing favorable traits and donor alleles, improvements in crop production and end-use quality can be achieved.

FRONTIERS IN PLANT SCIENCE (2021)

Review Neurosciences

Single-Cell Transcriptomics: Current Methods and Challenges in Data Acquisition and Analysis

Asif Adil et al.

Summary: Rapid advancements in next-generation sequencing have made single-cell transcriptomics a conventional practice in scientific laboratories, providing new insights into the heterogeneity of cells at the individual level. Challenges in analyzing the data include normalization, differential gene expression analysis, and dimensionality reduction. New methods like 10x Chromium can profile millions of cells in parallel, creating a considerable amount of data and highlighting the need for new bioinformatics algorithms and tools for analysis.

FRONTIERS IN NEUROSCIENCE (2021)

Article Multidisciplinary Sciences

VirION2: a short- and long-read sequencing and informatics workflow to study the genomic diversity of viruses in nature

Olivier Zablocki et al.

Summary: Microbes play important roles in natural ecosystems, but are constrained by their viral predators. Studying viruses in nature can be challenging, but using integrated short- and long-read sequencing can provide more comprehensive results.

PEERJ (2021)

Article Immunology

PNOC Expressed by B Cells in Cholangiocarcinoma Was Survival Related and LAIR2 Could Be a T Cell Exhaustion Biomarker in Tumor Microenvironment: Characterization of Immune Microenvironment Combining Single-Cell and Bulk Sequencing Technology

Zheng Chen et al.

Summary: This study identified PNOC and LAIR2 as biomarkers for immune infiltration evaluation in cholangiocarcinoma, with PNOC expressed by B cells predicting better patient survival and LAIR2 correlating with worse patient survival. High B cell infiltration levels were associated with better overall survival in cholangiocarcinoma patients. Pathway changes in malignant cell populations were also analyzed in relation to tumor progression.

FRONTIERS IN IMMUNOLOGY (2021)

Review Microbiology

Identifying biases and their potential solutions in human microbiome studies

Jacob T. Nearing et al.

Summary: Advances in DNA sequencing technology have improved researchers' ability to explore human microbiomes, but systemic biases introduced during the process can lead to inconsistent results. Biases begin with sample collection and persist throughout experiments, resulting in observed microbial communities that differ significantly from the true composition. efforts to reduce bias in sequence-based human microbiome studies are ongoing.

MICROBIOME (2021)

Review Genetics & Heredity

Harnessing Current Knowledge of DNA N6-Methyladenosine From Model Plants for Non-model Crops

Sadaruddin Chachar et al.

Summary: Studies have shown that DNA 6mA modification plays a significant role in plants, particularly activating gene expression in model plants. However, the occurrence and importance of 6mA in non-model crops remain less understood, presenting an area for further research.

FRONTIERS IN GENETICS (2021)

Article Genetics & Heredity

A Comparison for Dimensionality Reduction Methods of Single-Cell RNA-seq Data

Ruizhi Xiang et al.

Summary: The study compared the performance of different dimensionality reduction methods in scRNA-seq data analysis. t-SNE showed the best accuracy and computing cost, while UMAP demonstrated high stability and preserved the cohesion and separation of cell populations.

FRONTIERS IN GENETICS (2021)

Article Oncology

Genomic Heterogeneity and Clonal Evolution in Gastroesophageal Junction Cancer Revealed by Single Cell DNA Sequencing

Qingke Duan et al.

Summary: This study used single cell DNA sequencing to uncover genomic variations and clonal evolution in GEJ cancer, revealing significant heterogeneity and subclonal architecture within tumors, as well as two patterns of multi-station lymph node metastasis between primary site and lymph nodes.

FRONTIERS IN ONCOLOGY (2021)

Article Biotechnology & Applied Microbiology

Recovery of complete genomes and non-chromosomal replicons from activated sludge enrichment microbial communities with long read metagenome sequencing

Krithika Arumugam et al.

Summary: New long read sequencing technologies show great potential for recovering complete genomes from complex microbial communities, including key functional species relevant for wastewater bioprocesses. The study successfully recovered closed or complete genomes of several important microbial species and circularized plasmids, phages, and small microbial genomes from these communities using long read data.

NPJ BIOFILMS AND MICROBIOMES (2021)

Review Biochemistry & Molecular Biology

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases

Sandra Brasil et al.

Summary: Rare diseases affect a large population but treatment options are limited. The development of new technologies accelerates the diagnosis of rare diseases, while epigenetics becomes a promising treatment option. With the help of AI tools, the diagnosis and treatment of rare diseases can be further improved.

FRONTIERS IN MOLECULAR BIOSCIENCES (2021)

Review Medicine, General & Internal

Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders

Andrea Barp et al.

Summary: Neuromuscular disorders are often caused by genetic factors, and genetic testing is crucial for accurate diagnosis, family counseling, and prenatal screening. However, challenges and pitfalls remain in genetic analysis, which clinicians should be aware of.

DIAGNOSTICS (2021)

Letter Cardiac & Cardiovascular Systems

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants

Luis R. Lopes et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2021)

Review Chemistry, Physical

Single-Cell Sequencing Methodologies: From Transcriptome to Multi-Dimensional Measurement

Yingwen Chen et al.

Summary: Cells are fundamental building blocks of biological systems, and studying single cells can provide insights into cell diversity and disease processes. Single-cell RNA sequencing technologies allow cellular heterogeneity to be dissected at unprecedented resolution.

SMALL METHODS (2021)

Review Biochemistry & Molecular Biology

Single-Cell RNA Sequencing in Parkinson's Disease

Shi-Xun Ma et al.

Summary: Single-cell and single-nucleus RNA sequencing technologies have advanced the molecular pathogenesis research of neurodegenerative disorders, particularly Parkinson's disease. Despite technical challenges in PD, recent studies have successfully characterized diverse cell-type populations and identified cell type-specific disease associations in PD.

BIOMEDICINES (2021)

Article Biochemical Research Methods

GLEANER: a web server for GermLine cycle Expression ANalysis and Epigenetic Roadmap visualization

Shiyang Zeng et al.

Summary: GLEANER is a web server dedicated to the analysis and visualization of multiomics data related to the mammalian germline cycle, providing a comprehensive collection of transcriptome, DNA methylome, chromatin accessibility, and histone modification characteristics. It displays integrative analysis results for each input gene, genes with correlated transcriptional changes, and overall continuous dynamic trends in the germline cycle.

BMC BIOINFORMATICS (2021)

Review Medical Laboratory Technology

Single-cell sequencing technology in tumor research

Xue Bai et al.

Summary: The emergence of single-cell sequencing technology has effectively addressed the issue of tumor cell heterogeneity, providing important basis for correctly classifying tumor cells and revealing their molecular level changes.

CLINICA CHIMICA ACTA (2021)

Article Biotechnology & Applied Microbiology

DNA adenine methylase, not the PstI restriction-modification system, regulates virulence gene expression in Shiga toxin-producing Escherichia coli

Michelle Qiu Carter et al.

Summary: The study revealed significant differences in the methylome between different pathogenic strains of Escherichia coli, with one key reason being the presence of the PstI R-M system. In comparison to deficiency in DNA adenine methylase (Dam), deficiency in the PstI R-M system only had a transcriptional impact on a small number of genes.

FOOD MICROBIOLOGY (2021)

Review Biochemistry & Molecular Biology

Molecular Alterations in Gastric Intestinal Metaplasia

Paulius Jonaitis et al.

Summary: Gastric cancer is a common cause of mortality worldwide, with intestinal metaplasia considered a key factor in its development. Recent research has identified various molecular alterations in intestinal metaplasia, some of which show strong associations with the disease and potential for prevention and treatment, though study homogeneity is a key limiting factor.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Biochemistry & Molecular Biology

Elucidating the Response of Crop Plants towards Individual, Combined and Sequentially Occurring Abiotic Stresses

Khalid Anwar et al.

Summary: Plants face increasing frequencies of multiple abiotic stresses in nature, and their responses to these combined and sequential stresses differ from those triggered by individual stress. Studies have shown that there are interacting signaling pathways between various abiotic stresses, which are crucial for enhancing crops' tolerance to multiple stress combinations.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Oncology

Applications of single-cell sequencing in cancer research: progress and perspectives

Yalan Lei et al.

Summary: Single-cell sequencing is a powerful tool that has revolutionized our understanding of the biological characteristics and dynamics within cancer lesions. Its use in cancer research provides valuable information related to malignant cell landscapes, immune cell interactions, tumor heterogeneity, circulating tumor cells, and underlying mechanisms of tumor behaviors, with bright prospects for diagnosis, targeted therapy, and prognostic prediction among various tumors. Advances in single-cell sequencing will undoubtedly enhance our understanding of tumor biological characteristics and uncover potential precise therapeutic targets for patients in the near future.

JOURNAL OF HEMATOLOGY & ONCOLOGY (2021)

Review Biochemistry & Molecular Biology

Strategies for monitoring cell-cell interactions

Tyler J. Bechtel et al.

Summary: Multicellular organisms rely on physical cell-cell interactions to regulate physiological processes. Understanding the complexity of these interactions has greatly improved insight into cell-cell engagement biology and led to opportunities for therapeutic development. Emerging approaches that combine chemistry and biology technologies effectively interrogate cell-cell interfaces with molecular-level detail.

NATURE CHEMICAL BIOLOGY (2021)

Review Genetics & Heredity

Integrating single-cell and spatial transcriptomics to elucidate intercellular tissue dynamics

Sophia K. Longo et al.

Summary: Integrating single-cell RNA sequencing with spatial transcriptomics allows for the localization of transcriptionally characterized single cells within their native tissue context. While scRNA-seq identifies cell subpopulations within tissue, it does not capture their spatial distribution or reveal local networks of intercellular communication. Recent techniques like multiplexed in situ hybridization and in situ sequencing, defined as high-plex RNA imaging, can help address these limitations. However, the need for approaches to integrate single-cell and spatial data remains, given that no current method provides as complete a scope of the transcriptome as scRNA-seq.

NATURE REVIEWS GENETICS (2021)

Review Biotechnology & Applied Microbiology

Exploring the gene pool of Brassica napus by genomics-based approaches

Dandan Hu et al.

Summary: The study investigates the genetic diversity, genome structure, and population-level differentiation of the rapeseed gene pool in relation to known exotic introgressions. It summarizes progress in gene cloning, trait-marker associations, gene editing, molecular marker-assisted selection, and genome-wide prediction techniques. Future advancements are expected to accelerate genetic diversity manipulation for genomic-based improvement in rapeseed crops.

PLANT BIOTECHNOLOGY JOURNAL (2021)

Review Oncology

Deciphering the epigenetic network in cancer radioresistance

Ariana Cabrera-Licona et al.

Summary: Radiotherapy, along with surgery and systemic chemotherapy, is crucial in the clinical management of cancer, but radioresistance remains a major challenge. Epigenetic mechanisms regulating cancer hallmarks play a key role in the development of radiation resistance, and targeting these mechanisms can enhance treatment effectiveness.

RADIOTHERAPY AND ONCOLOGY (2021)

Review Agronomy

Genomics and breeding innovations for enhancing genetic gain for climate resilience and nutrition traits

Pallavi Sinha et al.

Summary: Integrating genomics technologies and breeding methods to adjust core parameters of the breeder's equation can accelerate the delivery of climate-resilient and nutrient rich crops for future food security. This requires the identification or creation of favorable alleles/haplotypes, the addition of novel alleles for target traits while maintaining genetic diversity, and improvements in selection intensity and criteria. The heritability estimates also play a crucial role in enhancing genetic gains for climate resilience and nutritional traits.

THEORETICAL AND APPLIED GENETICS (2021)

Review Plant Sciences

Feature Review Designing Future Crops: Genomics-Assisted Breeding Comes of Age

Rajeev K. Varshney et al.

Summary: In the future, genomic-assisted breeding (GAB 2.0) will rely on new approaches to manipulate allelic variation for creating novel diversity, optimize crop genomes, and design more climate-smart crop cultivars with higher nutritional value.

TRENDS IN PLANT SCIENCE (2021)

Article Multidisciplinary Sciences

Detecting and phasing minor single-nucleotide variants from long-read sequencing data

Zhixing Feng et al.

Summary: Cellular genetic heterogeneity is common across biological conditions, yet high error rates in long-read sequencing technologies limit their application to this subject. iGDA is introduced as a tool for accurate detection and phasing of minor variants, enabling precise haplotype reconstruction.

NATURE COMMUNICATIONS (2021)

Article Microbiology

Detection of Virus-Related Sequences Associated With Potential Etiologies of Hepatitis in Liver Tissue Samples From Rats, Mice, Shrews, and Bats

Wenqiao He et al.

Summary: This study investigated viral communities in the livers of rats, mice, house shrews, and bats using viral metagenomics and PCR methods, revealing diverse sequences including hepatitis-related viruses. Higher detection rates of pegivirus sequences were found in rat liver tissue and serum samples, while torque teno virus sequences had higher detection rates in rat and house shrew serum samples.

FRONTIERS IN MICROBIOLOGY (2021)

Review Genetics & Heredity

A Sight on Single-Cell Transcriptomics in Plants Through the Prism of Cell-Based Computational Modeling Approaches: Benefits and Challenges for Data Analysis

Aleksandr Bobrovskikh et al.

Summary: Single-cell technology has been mainly used in animals to obtain high-resolution transcriptomic data in the past decade, but there are also efforts to apply this technology in plant tissues. The unique features of plant tissues, such as cell-to-cell communication topology, play a significant role in analyzing single-cell transcriptomic data. Cell-based computational modeling approaches offer new opportunities for summarizing multiscale data in plant research.

FRONTIERS IN GENETICS (2021)

Article Genetics & Heredity

Challenges, Strategies, and Perspectives for Reference-Independent Longitudinal Multi-Omic Microbiome Studies

Susana Martinez Arbas et al.

Summary: Multi-omic studies have become increasingly prevalent in microbial communities, allowing for a deeper understanding of community structure and function. Longitudinal multi-omic microbiome datasets offer advantages in understanding community dynamics.

FRONTIERS IN GENETICS (2021)

Review Genetics & Heredity

Machine Intelligence in Single-Cell Data Analysis: Advances and New Challenges

Jiajia Liu et al.

Summary: The rapid development of single-cell technologies enables in-depth analysis of cellular heterogeneity, providing valuable insights for understanding complex biological systems and diseases. Machine learning methods play a crucial role in single-cell multi-omics data analysis, but face challenges such as multi-omics integration and data analysis.

FRONTIERS IN GENETICS (2021)

Review Oncology

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Cristian Scatena et al.

Summary: Recent genomic revolution has shed light on the genetic alterations of cutaneous melanoma, offering new insights and tools for personalized medicine. High-throughput genomic technologies have facilitated the profiling of melanoma, allowing better prediction of biological and clinical behaviors.

FRONTIERS IN ONCOLOGY (2021)

Review Oncology

Immunotherapy in the Treatment of Urothelial Bladder Cancer: Insights From Single-Cell Analysis

Jingyu Zang et al.

Summary: Advancements in technology have enabled the use of single-cell analysis in characterizing the multicellular ecosystem of UBC, providing insights for more effective immune-based therapies.

FRONTIERS IN ONCOLOGY (2021)

Review Agronomy

Potential Application of Genomic Technologies in Breeding for Fungal and Oomycete Disease Resistance in Pea

Ambuj B. Jha et al.

Summary: Pea crops are often affected by various fungal diseases, with traditional breeding methods and next-generation sequencing platforms being key in reducing yield losses. Recent genome studies have enabled rapid identification of genetic loci associated with disease resistance in peas.

AGRONOMY-BASEL (2021)

Review Biochemistry & Molecular Biology

How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

Lea D. Schlieben et al.

Summary: Rare diseases collectively impact approximately 350 million people worldwide, with nearly 6,000 distinct rare disorders identified. Whole exome sequencing is improving diagnostic rates, but challenges in variant detection and interpretation remain. RNA sequencing is increasingly being used as a complementary diagnostic tool to enhance detection and interpretation of pathogenic variants, leading to diagnostic rates of 10-35% in rare diseases.

FRONTIERS IN MOLECULAR BIOSCIENCES (2021)

Article Biotechnology & Applied Microbiology

LIQA: long-read isoform quantification and analysis

Yu Hu et al.

Summary: LIQA is a tool for long-read RNA sequencing data that quantifies isoform expression and detects differential alternative splicing events, demonstrating high accuracy in various experimental datasets.

GENOME BIOLOGY (2021)

Article Biotechnology & Applied Microbiology

Long-read cDNA sequencing identifies functional pseudogenes in the human transcriptome

Robin-Lee Troskie et al.

Summary: Pseudogenes, once considered as functionless relics of evolution, are now recognized as a complex and dynamic component of the human transcriptional landscape. This study identified hundreds of novel transcribed pseudogenes expressed in tissue-specific patterns, some of which have intact open reading frames and encode proteins. Deleting the nucleus-enriched pseudogene PDCL3P4 using CRISPR-Cas9 led to perturbations in hundreds of genes, highlighting the potential biological impact of noncoding pseudogenes.

GENOME BIOLOGY (2021)

Review Biotechnology & Applied Microbiology

Personalized genome structure via single gamete sequencing

Ruqian Lyu et al.

Summary: Genetic maps are essential for understanding disease genetics and evolutionary processes. Single-cell gamete sequencing has the potential to combine the advantages of short-read sequencing with the ability to build personalized genetic maps, opening up a new space in personalized genetics.

GENOME BIOLOGY (2021)

Review Biochemistry & Molecular Biology

Multi-omics data integration considerations and study design for biological systems and disease

Stefan Graw et al.

Summary: This article discusses the increasing demand for merging biological features to study a system as a whole, due to advancements in next-generation sequencing and mass spectrometry. Technological limitations such as sample preparation steps, material amount required for sequencing, and sequencing depth requirements need to be addressed. The development of data integration methods, considerations for each data feature, limitations in gene and protein abundance, and the influence of the microbiome on gene and protein expression are important aspects in studying multi-omics data integration.

MOLECULAR OMICS (2021)

Review Parasitology

Application of the omics sciences to the study of Naegleria fowleri, Acanthamoeba spp., and Balamuthia mandrillaris: current status and future projections

Libia Zulema Rodriguez-Anaya et al.

Summary: This review explores the sequenced genomes of pathogens like Naegleria fowleri, Acanthamoeba spp. and Balamuthia mandrillaris, highlighting the significance of comparative genomics and differential gene/protein expression analyses in identifying unique genes and pathways related to pathogenicity. The integration of omics data provides insights into the molecular complexity required for understanding virulence factors and potential advancements in therapy design and medical diagnosis.

PARASITE (2021)

Review Oncology

Computing the Role of Alternative Splicing in Cancer

Zhaoqi Liu et al.

Summary: This review summarizes the latest computational approaches to studying alternative splicing in cancer and highlights the current limitations of popular tools in this field. Additionally, some of the current computational challenges in characterizing the role of alternative splicing in cancer are discussed.

TRENDS IN CANCER (2021)

Review Fisheries

Microbiome diversity and dysbiosis in aquaculture

Sandra Infante-Villamil et al.

Summary: As the human population grows and the demand for high-quality protein increases, aquaculture must enhance productivity by improving resource utilization efficiency and managing microbial diversity to enhance animal health and, ultimately, productivity.

REVIEWS IN AQUACULTURE (2021)

Review Genetics & Heredity

Deciphering cell-cell interactions and communication from gene expression

Erick Armingol et al.

Summary: Intercellular interactions and communication can be inferred from RNA sequencing data, such as ligand-receptor pairs, which has led to new insights and methodologies for studying cell-cell interactions.

NATURE REVIEWS GENETICS (2021)

Editorial Material Pathology

Diagnostics in space: will zero gravity add weight to new advances?

Season Wong

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2020)

Editorial Material Biochemical Research Methods

Single-cell multimodal omics: the power of many

Chenxu Zhu et al.

NATURE METHODS (2020)

Article Clinical Neurology

New generation genetic testing entering the clinic

Sorina Gorcenco et al.

PARKINSONISM & RELATED DISORDERS (2020)

Article Multidisciplinary Sciences

Chromatin accessibility dynamics in a model of human forebrain development

Alexandro E. Trevino et al.

SCIENCE (2020)

Review Microbiology

Bacterial genetics and molecular pathogenesis in the age of high throughput DNA sequencing

Lauren Davey et al.

CURRENT OPINION IN MICROBIOLOGY (2020)

Article Biochemistry & Molecular Biology

Advances of single-cell genomics and epigenomics in human disease: where are we now?

Rizqah Kamies et al.

MAMMALIAN GENOME (2020)

Review Biochemistry & Molecular Biology

Advances and challenges in epigenomic single-cell sequencing applications

Martin Philpott et al.

CURRENT OPINION IN CHEMICAL BIOLOGY (2020)

Review Biochemical Research Methods

Status and Potential of Single-Cell Transcriptomics for Understanding Plant Development and Functional Biology

Muhammad Munir Iqbal et al.

CYTOMETRY PART A (2020)

Article Biochemical Research Methods

TALC: Transcript-level Aware Long-read Correction

Lucile Broseus et al.

BIOINFORMATICS (2020)

Article Biochemistry & Molecular Biology

Single-cell RNA sequencing reveals the landscape of early female germ cell development

Zheng-Hui Zhao et al.

FASEB JOURNAL (2020)

Review Infectious Diseases

Progress and applications of single-cell sequencing techniques

Aimaiti Yasen et al.

INFECTION GENETICS AND EVOLUTION (2020)

Article Genetics & Heredity

NanoReviser: An Error-Correction Tool for Nanopore Sequencing Based on a Deep Learning Algorithm

Luotong Wang et al.

FRONTIERS IN GENETICS (2020)

Article Allergy

Treg-inducing capacity of genomic DNA of Bifidobacterium longum subsp. infantis

Dongmei Li et al.

ALLERGY AND ASTHMA PROCEEDINGS (2020)

Review Biotechnology & Applied Microbiology

Microbial single-cell omics: the crux of the matter

Anne-Kristin Kaster et al.

APPLIED MICROBIOLOGY AND BIOTECHNOLOGY (2020)

Editorial Material Oncology

Field Carcinogenesis in Cancer Evolution: What the Cell Is Going On?

Ansam Sinjab et al.

CANCER RESEARCH (2020)

Article Biochemistry & Molecular Biology

Nick-seq for single-nucleotide resolution genomic maps of DNA modifications and damage

Bo Cao et al.

NUCLEIC ACIDS RESEARCH (2020)

Review Biochemistry & Molecular Biology

Ionizing Radiation-Induced Epigenetic Modifications and Their Relevance to Radiation Protection

Mauro Belli et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Review Genetics & Heredity

Elucidation of Biological Networks across Complex Diseases Using Single-Cell Omics

Yang Li et al.

TRENDS IN GENETICS (2020)

Review Medicine, Research & Experimental

Prospects for Use of Single-Cell Sequencing to Assess DNA Methylation in Asthma

Shuai Men et al.

MEDICAL SCIENCE MONITOR (2020)

Article Biochemistry & Molecular Biology

Benchmarking algorithms for pathway activity transformation of single-cell RNA-seq data

Yaru Zhang et al.

COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2020)

Article Biochemistry & Molecular Biology

Pinpointing Cell Identity in Time and Space

Anca F. Savulescu et al.

FRONTIERS IN MOLECULAR BIOSCIENCES (2020)

Review Biology

From whole-mount to single-cell spatial assessment of gene expression in 3D

Lisa N. Waylen et al.

COMMUNICATIONS BIOLOGY (2020)

Article Infectious Diseases

Improved High-Throughput Sequencing of the Human Oral Microbiome: From Illumina to PacBio

Jie Zhang et al.

CANADIAN JOURNAL OF INFECTIOUS DISEASES & MEDICAL MICROBIOLOGY (2020)

Article Biochemical Research Methods

Deconvolution of heterogeneous tumor samples using partial reference signals

Yufang Qin et al.

PLOS COMPUTATIONAL BIOLOGY (2020)

Review Plant Sciences

Small DNA Methylation, Big Player in Plant Abiotic Stress Responses and Memory

Junzhong Liu et al.

FRONTIERS IN PLANT SCIENCE (2020)

Review Genetics & Heredity

Applications of Single-Cell Omics to Dissect Tumor Microenvironment

Tingting Guo et al.

FRONTIERS IN GENETICS (2020)

Review Biotechnology & Applied Microbiology

Application of single-cell RNA sequencing in embryonic development

Yu Shangguan et al.

GENOMICS (2020)

Article Biotechnology & Applied Microbiology

Illuminating the dark side of the human transcriptome with long read transcript sequencing

Richard I. Kuo et al.

BMC GENOMICS (2020)

Review Genetics & Heredity

Exploring Beyond the DNA Sequence: A Review of Epigenomic Studies of DNA and Histone Modifications in Dementia

Lachlan F. MacBean et al.

CURRENT GENETIC MEDICINE REPORTS (2020)

Article Biotechnology & Applied Microbiology

Identification of cell type-specific methylation signals in bulk whole genome bisulfite sequencing data

C. Anthony Scott et al.

GENOME BIOLOGY (2020)

Review Biotechnology & Applied Microbiology

Opportunities and challenges in long-read sequencing data analysis

Shanika L. Amarasinghe et al.

GENOME BIOLOGY (2020)

Review Biochemistry & Molecular Biology

Measuring the microbiome: Best practices for developing and benchmarking microbiomics methods

Nicholas A. Bokulich et al.

COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2020)

Article Multidisciplinary Sciences

Slide-seq: A scalable technology for measuring genome-wide expression at high spatial resolution

Samuel G. Rodriques et al.

SCIENCE (2019)

Article Biochemical Research Methods

Illumina error correction near highly repetitive DNA regions improves de novo genome assembly

Mahdi Heydari et al.

BMC BIOINFORMATICS (2019)

Review Biochemistry & Molecular Biology

Human Germline Cell Development: from the Perspective of Single-Cell Sequencing

Lu Wen et al.

MOLECULAR CELL (2019)

Review Genetics & Heredity

Deciphering bacterial epigenomes using modern sequencing technologies

John Beaulaurier et al.

NATURE REVIEWS GENETICS (2019)

Editorial Material Genetics & Heredity

The Versatility of SMRT Sequencing

Matthew S. Hestand et al.

GENES (2019)

Review Chemistry, Analytical

Single cell transcriptomics: moving towards multi-omics

Yanling Song et al.

ANALYST (2019)

Article Biotechnology & Applied Microbiology

Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain et al.

NATURE BIOTECHNOLOGY (2018)

Article Multidisciplinary Sciences

Nanopore DNA Sequencing and Genome Assembly on the International Space Station

Sarah L. Castro-Wallace et al.

SCIENTIFIC REPORTS (2017)

Article Biodiversity Conservation

Third generation sequencing: technology and its potential impact on evolutionary biodiversity research

Christoph Bleidorn

SYSTEMATICS AND BIODIVERSITY (2016)

Article Multidisciplinary Sciences

Visualization and analysis of gene expression in tissue sections by spatial transcriptomics

Patrik L. Stahl et al.

SCIENCE (2016)

Article Biotechnology & Applied Microbiology

The real cost of sequencing: scaling computation to keep pace with data generation

Paul Muir et al.

GENOME BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

Evan Z. Macosko et al.

Article Multidisciplinary Sciences

A survey of human brain transcriptome diversity at the single cell level

Spyros Darmanis et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Review Biochemistry & Molecular Biology

Integrating the roles of long and small non-coding RNA in brain function and disease

G. Barry

MOLECULAR PSYCHIATRY (2014)

Article Neurosciences

DNA methylation regulates associative reward learning

Jeremy J. Day et al.

NATURE NEUROSCIENCE (2013)

Article Multidisciplinary Sciences

RNA-sequencing from single nuclei

Rashel V. Grindberg et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Multidisciplinary Sciences

Direct RNA sequencing

Fatih Ozsolak et al.

NATURE (2009)

Article Biochemical Research Methods

Imaging individual mRNA molecules using multiple singly labeled probes

Arjun Raj et al.

NATURE METHODS (2008)