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Article

Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing.

Nature genetics - 1 Nov 2010

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

Abstract excerpt

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 excess of singleton nonsense and nonsynonymous SNVs, as well as singleton SNVs in...

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PMID: 20972442
DOI: 10.1038/ng.691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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