Article
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.
Human mutation - 1 Jul 2013
Carr Ian M, Morgan Joanne, Watson Christopher, Melnik Svitlana, Diggle Christine P, Logan Clare V, Harrison Sally M, Taylor Graham R, Pena Sergio D J, Markham Alexander F, Alkuraya Fowzan S, Black Graeme C M, Ali Manir, Bonthron David T
Abstract excerpt
Massively parallel ("next generation") DNA sequencing (NGS) has quickly become the method of choice for seeking pathogenic mutations in rare uncharacterized monogenic diseases. Typically, before DNA sequencing, protein-coding regions are enriched from patient genomic DNA, representing either the entire genome ("exome sequencing") or selected mapped candidate loci. Sequence variants, identified as differences...
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