Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

doi:10.1038/s41598-021-99747-2

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Article

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific reports - 18 Oct 2021

Rowlands Charlie, Thomas Huw B, Lord Jenny, Wai Htoo A, Arno Gavin, Beaman Glenda, Sergouniotis Panagiotis, Gomes-Silva Beatriz, Campbell Christopher, Gossan Nicole, Hardcastle Claire, Webb Kevin, O'Callaghan Christopher, Hirst Robert A, Ramsden Simon, Jones Elizabeth, Clayton-Smith Jill, Webster Andrew R, Douglas Andrew G L, O'Keefe Raymond T, Newman William G, Baralle Diana, Black Graeme C M, Ellingford Jamie M

Abstract excerpt

The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 variants of uncertain significance (VUSs) that underwent splicing functional analyses. The capability of algorithms to differentiate VUSs away from the immediate splice site as...

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PMID: 34663891
DOI: 10.1038/s41598-021-99747-2
PMCID: PMC8523691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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