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Article

Prioritizing genes for X-linked diseases using population exome data.

Human molecular genetics - 1 Feb 2015

Ge Xiaoyan, Kwok Pui-Yan, Shieh Joseph T C

Abstract excerpt

Many new disease genes can be identified through high-throughput sequencing. Yet, variant interpretation for the large amounts of genomic data remains a challenge given variation of uncertain significance and genes that lack disease annotation. As clinically significant disease genes may be subject to negative selection, we developed a prediction method that measures paucity of non-synonymous variation in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25217573
DOI: 10.1093/hmg/ddu473
PMCID: PMC4291241

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