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Article

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

HGG advances - 18 Jul 2024

Oh Rachel Y, AlMail Ali, Cheerie David, Guirguis George, Hou Huayun, Yuki Kyoko E, Haque Bushra, Thiruvahindrapuram Bhooma, Marshall Christian R, Mendoza-Londono Roberto, Shlien Adam, Kyriakopoulou Lianna G, Walker Susan, Dowling James J, Wilson Michael D, Costain Gregory

Abstract excerpt

Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion PVS1). The exact nature and predictability of splicing effects of unselected rare CSSVs in blood-expressed genes are poorly understood. We identified 168 rare CSSVs in...

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Identifiers

PMID: 38659227
DOI: 10.1016/j.xhgg.2024.100299
PMCID: PMC11144818

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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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