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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...

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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: Steinberg, Julia, Honti, Frantisek, Meader, Stephen, Webber, Caleb
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4551909/
https://ncbi.nlm.nih.gov/pubmed/26001969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkv474
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