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Article

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2020

Wai Htoo A, Lord Jenny, Lyon Matthew, Gunning Adam, Kelly Hugh, Cibin Penelope, Seaby Eleanor G, Spiers-Fitzgerald Kerry, Lye Jed, Ellard Sian, Thomas N Simon, Bunyan David J, Douglas Andrew G L, Baralle Diana

Abstract excerpt

PURPOSE: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories. METHODS:...

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Identifiers

PMID: 32123317
DOI: 10.1038/s41436-020-0766-9
PMCID: PMC7272326

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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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