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Article

Characterising and predicting haploinsufficiency in the human genome.

PLoS genetics - 14 Oct 2010

Huang Ni, Lee Insuk, Marcotte Edward M, Hurles Matthew E

Abstract excerpt

Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred haploinsufficient (HI) genes. We have compiled a map of 1,079 haplosufficient (HS) genes by systematic identification of genes unambiguously and repeatedly compromised by copy number variation among 8,458 apparently...

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Identifiers

PMID: 20976243
DOI: 10.1371/journal.pgen.1001154
PMCID: PMC2954820

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