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Article

Loss-of-function tolerance of enhancers in the human genome.

PLoS genetics - 1 Apr 2020

Xu Duo, Gokcumen Omer, Khurana Ekta

Abstract excerpt

Previous studies have surveyed the potential impact of loss-of-function (LoF) variants and identified LoF-tolerant protein-coding genes. However, the tolerance of human genomes to losing enhancers has not yet been evaluated. Here we present the catalog of LoF-tolerant enhancers using structural variants from whole-genome sequences. Using a conservative approach, we estimate that individual human genomes possess...

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Identifiers

PMID: 32243438
DOI: 10.1371/journal.pgen.1008663
PMCID: PMC7159235

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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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