Virmid: accurate detection of somatic mutations with sample impurity inference
書誌事項
- 公開日
- 2013-08-29
- 権利情報
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- http://creativecommons.org/licenses/by/2.0/
- http://creativecommons.org/licenses/by/2.0/
- DOI
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- 10.1186/gb-2013-14-8-r90
- 公開者
- Springer Science and Business Media LLC
説明
<jats:title>Abstract</jats:title><jats:p>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 <jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="http://sourceforge.net/projects/virmid/">http://sourceforge.net/projects/virmid/</jats:ext-link>.</jats:p>
収録刊行物
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- Genome Biology
-
Genome Biology 14 (8), R90-, 2013-08-29
Springer Science and Business Media LLC
