Haploinsufficiency predictions without study bias

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Haploinsufficiency predictions without study bias

Any given human individual carries multiple genetic variants that disrupt protein-coding genes, through structural variation, as well as nucleotide variants and indels. Predicting the phenotypic consequences of a gene disruption remains a significant challenge. Current approaches employ information from a range of biological networks to predict which human genes are haploinsufficient (meaning t...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2015

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/gkv474