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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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Bibliografiske detaljer
Main Authors: Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Online adgang: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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