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BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity

BACKGROUND: Accurate genomic variant detection is an essential step in gleaning medically useful information from genome data. However, low concordance among variant-calling methods reduces confidence in the clinical validity of whole genome and exome sequence data, and confounds downstream analysis...

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書誌詳細
主要な著者: Cantarel, Brandi L, Weaver, Daniel, McNeill, Nathan, Zhang, Jianhua, Mackey, Aaron J, Reese, Justin
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3999887/
https://ncbi.nlm.nih.gov/pubmed/24725768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-104
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