Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to interpreting LoF variants in different contexts.

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Auteurs principaux: Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein
Format: article
Langue:EN
Publié: Nature Portfolio 2017
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Accès en ligne:https://doaj.org/article/fa612e5114724713a9157e555a8858b1
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