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Article

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American journal of human genetics - 4 May 2017

Lee Melissa, Roos Patrick, Sharma Neeraj, Atalar Melis, Evans Taylor A, Pellicore Matthew J, Davis Emily, Lam Anh-Thu N, Stanley Susan E, Khalil Sara E, Solomon George M, Walker Doug, Raraigh Karen S, Vecchio-Pagan Briana, Armanios Mary, Cutting Garry R

Abstract excerpt

We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants. Our approach is distinctive in that it compares the splice potential of a sequence bearing a variant with the splice potential of the reference sequence. After training, classification accurately identified 168 of 180 (93.3%) canonical splice sites...

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Identifiers

PMID: 28475858
DOI: 10.1016/j.ajhg.2017.04.001
PMCID: PMC5420354

Genes

CFTR
DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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