4.8 Article

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

Philip S. Robinson et al.

Summary: Research suggests that individuals with germline POLE or POLD1 mutations have increased mutational burdens in their somatic cells, yet do not exhibit overt signs of premature aging, besides a heightened risk of cancer. This indicates that normal cells are capable of tolerating high mutation rates.

NATURE GENETICS (2021)

Article Oncology

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou et al.

Summary: The study investigates the impact of knockout of 42 human DNA repair genes on mutational patterns using CRISPR-Cas9 and whole-genome sequencing. A clinically relevant tool to detect mismatch repair-deficient tumors was developed and validated for enhanced detection of MMR-deficient tumors with implications for immunotherapy responsiveness.

NATURE CANCER (2021)

Article Multidisciplinary Sciences

Tobacco smoking and somatic mutations in human bronchial epithelium

Kenichi Yoshida et al.

NATURE (2020)

Article Multidisciplinary Sciences

The mutational impact of culturing human pluripotent and adult stem cells

Ewart Kuijk et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions

Oliver Thompson et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

The mutational landscape of normal human endometrial epithelium

Luiza Moore et al.

NATURE (2020)

Article Biochemical Research Methods

Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes

Davis J. McCarthy et al.

NATURE METHODS (2020)

Review Genetics & Heredity

Induced pluripotent stem cells in disease modelling and drug discovery

R. Grant Rowe et al.

NATURE REVIEWS GENETICS (2019)

Article Biochemistry & Molecular Biology

A Compendium of Mutational Signatures of Environmental Agents

Jill E. Kucab et al.

Article Multidisciplinary Sciences

The landscape of somatic mutation in normal colorectal epithelial cells

Henry Lee-Six et al.

NATURE (2019)

Review Multidisciplinary Sciences

Clonal hematopoiesis in human aging and disease

Siddhartha Jaiswal et al.

SCIENCE (2019)

Article Cell & Tissue Engineering

A Non-canonical BCOR-PRC1.1 Complex Represses Differentiation Programs in Human ESCs

Zheng Wang et al.

CELL STEM CELL (2018)

Article Genetics & Heredity

Quantification of subclonal selection in cancer from bulk sequencing data

Marc J. Williams et al.

NATURE GENETICS (2018)

Article Multidisciplinary Sciences

Validating the concept of mutational signatures with isogenic cell models

Xueqing Zou et al.

NATURE COMMUNICATIONS (2018)

News Item Multidisciplinary Sciences

Reprogrammed stem cells approved to mend hearts

David Cyranoski

NATURE (2018)

Article Multidisciplinary Sciences

Somatic mutant clones colonize the human esophagus with age

Inigo Martincorena et al.

SCIENCE (2018)

Article Biotechnology & Applied Microbiology

Influence of donor age on induced pluripotent stem cells

Valentina Lo Sardo et al.

NATURE BIOTECHNOLOGY (2017)

Review Biotechnology & Applied Microbiology

Induced pluripotent stem cell technology: a decade of progress

Yanhong Shi et al.

NATURE REVIEWS DRUG DISCOVERY (2017)

Article Multidisciplinary Sciences

Common genetic variation drives molecular heterogeneity in human iPSCs

Helena Kilpinen et al.

NATURE (2017)

Article Multidisciplinary Sciences

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Florian T. Merkle et al.

NATURE (2017)

Article Medicine, General & Internal

Autologous Induced Stem-Cell-Derived Retinal Cells for Macular Degeneration

M. Mandai et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Multidisciplinary Sciences

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Erika M. Kwon et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Cell Biology

Hotspots of De Novo Point Mutations in Induced Pluripotent Stem Cells

Masahito Yoshihara et al.

CELL REPORTS (2017)

Article Biochemistry & Molecular Biology

Universal Patterns of Selection in Cancer and Somatic Tissues

Inigo Martincorena et al.

Article Biochemical Research Methods

BCFtools/csq: haplotype-aware variant consequences

Petr Danecek et al.

BIOINFORMATICS (2017)

Article Multidisciplinary Sciences

Nucleotide excision repair is impaired by binding of transcription factors to DNA

Radhakrishnan Sabarinathan et al.

NATURE (2016)

Article Multidisciplinary Sciences

Tissue-specific mutation accumulation in human adult stem cells during life

Francis Blokzijl et al.

NATURE (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

Whole-genome mutational burden analysis of three pluripotency induction methods

Kunal Bhutani et al.

NATURE COMMUNICATIONS (2016)

Article Genetics & Heredity

Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells

Foad J. Rouhani et al.

PLOS GENETICS (2016)

Article Cell & Tissue Engineering

Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells

Duncan Baker et al.

STEM CELL REPORTS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Multidisciplinary Sciences

Cell-of-origin chromatin organization shapes the mutational landscape of cancer

Paz Polak et al.

NATURE (2015)

Article Multidisciplinary Sciences

High burden and pervasive positive selection of somatic mutations in normal human skin

Inigo Martincorena et al.

SCIENCE (2015)

Article Developmental Biology

Gain of 20q11.21 in human embryonic stem cells improves cell survival by increased expression of Bcl-xL

H. T. Nguyen et al.

MOLECULAR HUMAN REPRODUCTION (2014)

Article Biochemistry & Molecular Biology

Age-related mutations associated with clonal hematopoietic expansion and malignancies

Mingchao Xie et al.

NATURE MEDICINE (2014)

Article Medicine, General & Internal

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

Giulio Genovese et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Medicine, General & Internal

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

Siddhartha Jaiswal et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Cell & Tissue Engineering

Efficient and Cost-Effective Generation of Mature Neurons From Human Induced Pluripotent Stem Cells

Cherif Badja et al.

STEM CELLS TRANSLATIONAL MEDICINE (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Medicine, General & Internal

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

Timothy J. Ley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Multidisciplinary Sciences

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

Alexej Abyzov et al.

NATURE (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Multidisciplinary Sciences

An integrated map of genetic variation from 1,092 human genomes

David M. Altshuler et al.

NATURE (2012)

Article Multidisciplinary Sciences

Somatic coding mutations in human induced pluripotent stem cells

Athurva Gore et al.

NATURE (2011)

Article Multidisciplinary Sciences

Copy number variation and selection during reprogramming to pluripotency

Samer M. Hussein et al.

NATURE (2011)

Letter Biotechnology & Applied Microbiology

Karotypic abnormalities in human induced pluripotent stem cells and embryonic stem cells

Seth M. Taapken et al.

NATURE BIOTECHNOLOGY (2011)

Letter Biotechnology & Applied Microbiology

Recurrent copy number variations in human induced pluripotent stem cells

Kristen Martins-Taylor et al.

NATURE BIOTECHNOLOGY (2011)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biotechnology & Applied Microbiology

Adaptation to culture of human embryonic stem cells and oncogenesis in vivo

Duncan E. C. Baker et al.

NATURE BIOTECHNOLOGY (2007)

Article Biotechnology & Applied Microbiology

Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells

JS Draper et al.

NATURE BIOTECHNOLOGY (2004)