A practical method to detect SNVs and indels from whole genome and exome sequencing data

Daichi Shigemizu, Akihiro Fujimoto, Shintaro Akiyama, Tetsuo Abe, Kaoru Nakano, Keith A. Boroevich, Yujiro Yamamoto, Mayuko Furuta, Michiaki Kubo, Hidewaki Nakagawa, Tatsuhiko Tsunoda

研究成果: Article査読

23 被引用数 (Scopus)

抄録

The recent development of massively parallel sequencing technology has allowed the creation of comprehensive catalogs of genetic variation. However, due to the relatively high sequencing error rate for short read sequence data, sophisticated analysis methods are required to obtain high-quality variant calls. Here, we developed a probabilistic multinomial method for the detection of single nucleotide variants (SNVs) as well as short insertions and deletions (indels) in whole genome sequencing (WGS) and whole exome sequencing (WES) data for single sample calling. Evaluation with DNA genotyping arrays revealed a concordance rate of 99.98% for WGS calls and 99.99% for WES calls. Sanger sequencing of the discordant calls determined the false positive and false negative rates for the WGS (0.0068% and 0.17%) and WES (0.0036% and 0.0084%) datasets. Furthermore, short indels were identified with high accuracy (WGS: 94.7%, WES: 97.3%). We believe our method can contribute to the greater understanding of human diseases.

本文言語English
論文番号2161
ジャーナルScientific reports
3
DOI
出版ステータスPublished - 2013

All Science Journal Classification (ASJC) codes

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