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Article

Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.

Human mutation - 1 Nov 2022

Postel Mackenzie D, Culver Julie O, Ricker Charité, Craig David W

Abstract excerpt

While whole-genome and exome sequencing have transformed our collective understanding of genetics' role in disease pathogenesis, there are certain conditions and populations for whom DNA-level data fails to identify the underlying genetic etiology. Specifically, patients of non-White race and non-European ancestry are disproportionately affected by "variants of unknown/uncertain significance" (VUS), limiting the...

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Identifiers

PMID: 35510381
DOI: 10.1002/humu.24394
PMCID: PMC9560997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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