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Article

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

Scientific reports - 1 Jan 2013

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

Abstract excerpt

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...

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PMID: 23831772
DOI: 10.1038/srep02161
PMCID: PMC3703611

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