Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

doi:10.1016/j.cell.2020.02.031

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Article

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

Cell - 19 Mar 2020

Kvon Evgeny Z, Zhu Yiwen, Kelman Guy, Novak Catherine S, Plajzer-Frick Ingrid, Kato Momoe, Garvin Tyler H, Pham Quan, Harrington Anne N, Hunter Riana D, Godoy Janeth, Meky Eman M, Akiyama Jennifer A, Afzal Veena, Tran Stella, Escande Fabienne, Gilbert-Dussardier Brigitte, Jean-Marçais Nolwenn, Hudaiberdiev Sanjarbek, Ovcharenko Ivan, Dobbs Matthew B, Gurnett Christina A, Manouvrier-Hanu Sylvie, Petit Florence, Visel Axel, Dickel Diane E, Pennacchio Len A

Abstract excerpt

Establishing causal links between non-coding variants and human phenotypes is an increasing challenge. Here, we introduce a high-throughput mouse reporter assay for assessing the pathogenic potential of human enhancer variants in vivo and examine nearly a thousand variants in an enhancer repeatedly linked to polydactyly. We show that 71% of all rare non-coding variants previously proposed as causal lead to...

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Identifiers

PMID: 32169219
DOI: 10.1016/j.cell.2020.02.031
PMCID: PMC7179509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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