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Old 05-28-2011, 12:13 PM   #1
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Default PubMed: Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discov

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Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discovery Projects.

Clin Genet. 2011 May 26;

Authors: Robinson PN, Krawitz P, Mundlos S

In whole-exome sequencing, target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, "next-generation" sequencing of the captured fragments. Since its introduction in 2009, whole-exome sequencing has been successfully used in several disease-gene discovery projects, but the analysis of whole-exome sequence data can be challenging. In this overview, we present a summary of the main computational strategies that have been applied to identify novel disease genes in whole-exome data, including intersect filters, the search for de novo mutations, and the application of linkage mapping or inference of identity by descent in family studies.

PMID: 21615730 [PubMed - as supplied by publisher]



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