Article

Determining the impact of putative loss-of-function variants in protein-coding genes

2017-02-07

Abstract excerpt

Variants predicted to result in the loss of function (LoF) of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (Annotation of Loss-of-Function Transcripts), a method to annotate and predict the disease-causing potential of LoF variants. Using data from Mendelian disease-gene discovery projects, we show that ALoFT can disti...

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Literature Corpus work: 7df90fe5-d801-5fcf-9dcf-9a07a491cfa2
DOI: 10.1101/106468

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