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Article

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.

PLoS computational biology - 1 Dec 2015

Bartha István, Rausell Antonio, McLaren Paul J, Mohammadi Pejman, Tardaguila Manuel, Chaturvedi Nimisha, Fellay Jacques, Telenti Amalio

Abstract excerpt

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants...

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Identifiers

PMID: 26642228
DOI: 10.1371/journal.pcbi.1004647
PMCID: PMC4671652

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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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