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PureCN: copy number calling and SNV classification using targeted short read sequencing
BACKGROUND: Matched sequencing of both tumor and normal tissue is routinely used to classify variants of uncertain significance (VUS) into somatic vs. germline. However, assays used in molecular diagnostics focus on known somatic alterations in cancer genes and often only sequence tumors. Therefore,...
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| 出版年: | Source Code Biol Med |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5157099/ https://ncbi.nlm.nih.gov/pubmed/27999612 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13029-016-0060-z |
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