Genome maps across 26 human populations reveal population-specific patterns of structural variation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Michal Levy-Sakin, Steven Pastor, Yulia Mostovoy, Le Li, Alden K. Y. Leung, Jennifer McCaffrey, Eleanor Young, Ernest T. Lam, Alex R. Hastie, Karen H. Y. Wong, Claire Y. L. Chung, Walfred Ma, Justin Sibert, Ramakrishnan Rajagopalan, Nana Jin, Eugene Y. C. Chow, Catherine Chu, Annie Poon, Chin Lin, Ahmed Naguib, Wei-Ping Wang, Han Cao, Ting-Fung Chan, Kevin Y. Yip, Ming Xiao, Pui-Yan Kwok

ABSTRACT

Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in one experiment. Analyzing optical genome maps of 154 individuals from the 26 populations sequenced in the 1000 Genomes Project, we find that phylogenetic population patterns of large SVs are similar to those of single nucleotide variations in 86% of the human genome, while ~2% of the genome has high structural complexity. We are able to characterize SVs in many intractable regions of the genome, including segmental duplications and subtelomeric, pericentromeric, and acrocentric areas. In addition, we discover ~60 Mb of non-redundant genome content missing in the reference genome sequence assembly. Our results highlight the need for a comprehensive set of alternate haplotypes from different populations to represent SV patterns in the genome. More... »

PAGES

1025

References to SciGraph publications

  • 2015-12. Tools and pipelines for BioNano data: molecule assembly pipeline and FASTA super scaffolding tool in BMC GENOMICS
  • 2005-09. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication in NATURE
  • 2017-12. OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps in GENOME BIOLOGY
  • 2018-12. An inflammatory-CCRK circuitry drives mTORC1-dependent metabolic and immunosuppressive reprogramming in obesity-associated hepatocellular carcinoma in NATURE COMMUNICATIONS
  • 2018-12. A chromosome-scale assembly of the sorghum genome using nanopore sequencing and optical mapping in NATURE COMMUNICATIONS
  • 2016-08. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2017-04. Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome in NATURE GENETICS
  • 2017-02-17. The evolution and population diversity of human-specific segmental duplications in NATURE ECOLOGY & EVOLUTION
  • 2002-01. Segmental duplications and the evolution of the primate genome in NATURE REVIEWS GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2011-06. The combination of serum trefoil factor 3 and pepsinogen testing is a valid non-endoscopic biomarker for predicting the presence of gastric cancer: a new marker for gastric cancer risk in JOURNAL OF GASTROENTEROLOGY
  • 2015-10. An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2015-10. A global reference for human genetic variation in NATURE
  • 2009-11. Computational methods for discovering structural variation with next-generation sequencing in NATURE METHODS
  • 2015-08. Assembly and diploid architecture of an individual human genome via single-molecule technologies in NATURE METHODS
  • 2015-05. Large-scale whole-genome sequencing of the Icelandic population in NATURE GENETICS
  • 2016-06-30. Long-read sequencing and de novo assembly of a Chinese genome in NATURE COMMUNICATIONS
  • 2012-01. Repetitive DNA and next-generation sequencing: computational challenges and solutions in NATURE REVIEWS GENETICS
  • 2016-10. De novo assembly and phasing of a Korean human genome in NATURE
  • 2018-10. Integrative detection and analysis of structural variation in cancer genomes in NATURE GENETICS
  • 2008-05. Mapping and sequencing of structural variation from eight human genomes in NATURE
  • 2016-10-06. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants in NATURE COMMUNICATIONS
  • 2016-03. Haplotyping germline and cancer genomes with high-throughput linked-read sequencing in NATURE BIOTECHNOLOGY
  • 2018-01-29. Nanopore sequencing and assembly of a human genome with ultra-long reads in NATURE BIOTECHNOLOGY
  • 2004-01. Versatile and open software for comparing large genomes in GENOME BIOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-019-08992-7

    DOI

    http://dx.doi.org/10.1038/s41467-019-08992-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112506620

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30833565


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