Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum

• Published in: Human mutation Vol. 43; no. 11; pp. 1590 - 1608
• Main Authors: Postel, Mackenzie D., Culver, Julie O., Ricker, Charité, Craig, David W.
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.11.2022; John Wiley and Sons Inc
• Subjects: deep intronic variants; Etiology; Gene Expression Profiling; genetic ancestry; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Genomes; Humans; Introns; Precision medicine; Reclassification; Review; Reviews; RNA; splicing variants; Transcriptomes; variants of uncertain significance; variants of unknown significance; splicing variants; genetic ancestry; variants of unknown significance; deep intronic variants; variants of uncertain significance

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 n...