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Article

Strategies for exome and genome sequence data analysis in disease-gene discovery projects.

Clinical genetics - 1 Aug 2011

Robinson Peter N, Krawitz P, Mundlos S

Abstract excerpt

In whole-exome sequencing (WES), 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, WES has been successfully used in several disease-gene discovery projects, but the analysis of whole-exome sequence data can be challenging....

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PMID: 21615730
DOI: 10.1111/j.1399-0004.2011.01713.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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