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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...

Topics

Gene Expression Profiling
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Introns
RNA

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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