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Virmid: accurate detection of somatic mutations with sample impurity inference

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Author(s)
Kim, Sangwoo; Jeong, Kyowon; Bhutani, Kunal; Lee, Jeong Ho; Patel, Anand; Scott, Eric; Nam, Hojung; Lee, Hayan; Gleeson, Joseph G.; Bafna, Vineet
Type
Article
Citation
GENOME BIOLOGY, v.14, no.8
Issued Date
2013-12
Abstract
Detection of somatic variation using sequence from disease-control matched data sets is a critical first step. In many cases including cancer, however, it is hard to isolate pure disease tissue, and the impurity hinders accurate mutation analysis by disrupting overall allele frequencies. Here, we propose a new method, Virmid, that explicitly determines the level of impurity in the sample, and uses it for improved detection of somatic variation. Extensive tests on simulated and real sequencing data from breast cancer and hemimegalencephaly demonstrate the power of our model. A software implementation of our method is available at http://sourceforge.net/projects/virmid/.
Publisher
BioMed Central
ISSN
1474-7596
DOI
10.1186/gb-2013-14-8-r90
URI
https://scholar.gist.ac.kr/handle/local/15330
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