Article
Variant detection sensitivity and biases in whole genome and exome sequencing.
BMC bioinformatics - 19 Jul 2014
Meynert Alison M, Ansari Morad, FitzPatrick David R, Taylor Martin S
Abstract excerpt
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 focused on the protein coding exome. We set out to quantify and understand how WGS compares with the targeted...
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