Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using maSively paraLel sequencing

Akihiro Fujimoto, Hidewaki Nakagawa, Naoya Hosono, Kaoru Nakano, Tetsuo Abe, Keith A. Boroevich, Masao Nagasaki, Rui Yamaguchi, Tetsuo Shibuya, Michiaki Kubo, Satoru Miyano, Yusuke Nakamura, Tatsuhiko Tsunoda

研究成果: Article査読

85 被引用数 (Scopus)

抄録

We report the analysis of a Japanese male using high-throughput sequencing to-40 coverage. More than 99% of the sequence reads were mapped to the reference human genome. Using a Bayesian decision method, we identified 3,132,608 single nucleotide variations (SNVs). Comparison with six previously reported genomes revealed an exceS of singleton nonsense and nonsynonymous SNVs, as weL as singleton SNVs in conserved non-coding regions. We also identified 5,319 deletions smaLer than 10 kb with high aCuracy, in aDition to copy number variations and rearrangements. De novo aSembly of the unmapped sequence reads generated around 3 Mb of novel sequence, which showed high similarity to non-reference human genomes and the human herpesvirus 4 genome. Our analysis suGests that considerable variation remains undiscovered in the human genome and that whole-genome sequencing is an invaluable tOl for obtaining a complete understanding of human genetic variation.

本文言語English
ページ(範囲)931-936
ページ数6
ジャーナルNature Genetics
42
11
DOI
出版ステータスPublished - 2010 11 1
外部発表はい

ASJC Scopus subject areas

  • Genetics

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