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Variant detection sensitivity and biases in whole genome and exome sequencing

BACKGROUND: Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of sequence data is likely to remain...

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書誌詳細
主要な著者: Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
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/PMC4122774/
https://ncbi.nlm.nih.gov/pubmed/25038816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-247
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