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Article

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

Nature communications - 29 Aug 2017

Balasubramanian Suganthi, Fu Yao, Pawashe Mayur, McGillivray Patrick, Jin Mike, Liu Jeremy, Karczewski Konrad J, MacArthur Daniel G, Gerstein Mark

Abstract excerpt

Variants predicted to result in the loss of function 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 loss-of-function variants. Using data from Mendelian disease-gene discovery projects, we show that ALoFT...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28851873
DOI: 10.1038/s41467-017-00443-5
PMCID: PMC5575292

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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