4.5 Review

The time is ripe to investigate human centromeres by long-read sequencing†

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemical Research Methods

Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

Haoyu Cheng et al.

Summary: hifiasm is a novel assembler that utilizes long high-fidelity sequence reads to accurately represent haplotype information, outperforming existing tools in haplotype-resolved assembly on various datasets, including a hexaploid genome dataset.

NATURE METHODS (2021)

Article Multidisciplinary Sciences

The structure, function and evolution of a complete human chromosome 8

Glennis A. Logsdon et al.

Summary: The study completed the linear assembly of human chromosome 8 using long-read sequencing technologies, resolving five long-standing gaps, including regions important for disease risk. The research revealed that the centromeric alpha-satellite sequence is generally methylated, and conducted comparative analysis of centromeres in chimpanzee, orangutan and macaque. The study estimates that the mutation rate of centromeric satellite DNA is accelerated compared to unique portions of the genome.

NATURE (2021)

Article Multidisciplinary Sciences

Telomere-to-telomere assembly of a complete human X chromosome

Karen H. Miga et al.

NATURE (2020)

Article Biotechnology & Applied Microbiology

Automated assembly of centromeres from ultra-long error-prone reads

Andrey Bzikadze et al.

NATURE BIOTECHNOLOGY (2020)

Article Multidisciplinary Sciences

Rapid and ongoing evolution of repetitive sequence structures in human centromeres

Yuta Suzuki et al.

SCIENCE ADVANCES (2020)

Article Biochemistry & Molecular Biology

Recompleting the Caenorhabditis elegans genome

Jun Yoshimura et al.

GENOME RESEARCH (2019)

Article Biotechnology & Applied Microbiology

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger et al.

NATURE BIOTECHNOLOGY (2019)

Article Multidisciplinary Sciences

The Genomic Landscape of Centromeres in Cancers

Anjan K. Saha et al.

SCIENTIFIC REPORTS (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 Biotechnology & Applied Microbiology

Linear assembly of a human centromere on the Y chromosome

Miten Jain et al.

NATURE BIOTECHNOLOGY (2018)

Article Multidisciplinary Sciences

High-resolution comparative analysis of great ape genomes

Zev N. Kronenberg et al.

SCIENCE (2018)

Article Biochemistry & Molecular Biology

Discovery and genotyping of structural variation from long-read haploid genome sequence data

John Huddleston et al.

GENOME RESEARCH (2017)

Article Biochemical Research Methods

Mapping DNA methylation with high-throughput nanopore sequencing

Arthur C. Rand et al.

NATURE METHODS (2017)

Article Multidisciplinary Sciences

Centromere evolution and CpG methylation during vertebrate speciation

Kazuki Ichikawa et al.

NATURE COMMUNICATIONS (2017)

Article Biochemical Research Methods

Alpha-CENTAURI: assessing novel centromeric repeat sequence variation with long read sequencing

Volkan Sevim et al.

BIOINFORMATICS (2016)

Article Biochemistry & Molecular Biology

Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles

Megan E. Aldrup-MacDonald et al.

GENOME RESEARCH (2016)

Article Multidisciplinary Sciences

De novo assembly and phasing of a Korean human genome

Jeong-Sun Seo et al.

NATURE (2016)

Article Multidisciplinary Sciences

Single-molecule sequencing of the desiccation-tolerant grass Oropetium thomaeum

Robert VanBuren et al.

NATURE (2015)

Article Multidisciplinary Sciences

Resolving the complexity of the human genome using single-molecule sequencing

Mark J. P. Chaisson et al.

NATURE (2015)

Article Biochemistry & Molecular Biology

Centromere reference models for human chromosomes X and Y satellite arrays

Karen H. Miga et al.

GENOME RESEARCH (2014)

Review Genetics & Heredity

The Past, Present, and Future of Human Centromere Genomics

Megan E. Aldrup-MacDonald et al.

Article Biochemistry & Molecular Biology

Human centromere genomics: now it's personal

Karen E. Hayden

CHROMOSOME RESEARCH (2012)

Article Multidisciplinary Sciences

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

David M. Altshuler et al.

NATURE (2012)

Article Biochemical Research Methods

Direct detection of DNA methylation during single-molecule, real-time sequencing

Benjamin A. Flusberg et al.

NATURE METHODS (2010)

Editorial Material Biochemistry & Molecular Biology

Centromeres Convert but Don't Cross

Paul B. Talbert et al.

PLOS BIOLOGY (2010)

Article Biochemistry & Molecular Biology

McKusick's Online Mendelian Inheritance in Man (OMIM®)

Joanna Amberger et al.

NUCLEIC ACIDS RESEARCH (2009)

Review Biochemistry & Molecular Biology

Alpha-satellite DNA of primates: old and new families

I Alexandrov et al.

CHROMOSOMA (2001)

Article Biochemistry & Molecular Biology

A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome

FR Santos et al.

HUMAN MOLECULAR GENETICS (2000)