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Article

Interpretable prioritization of splice variants in diagnostic next-generation sequencing.

American journal of human genetics - 2 Sept 2021

Danis Daniel, Jacobsen Julius O B, Carmody Leigh C, Gargano Michael A, McMurry Julie A, Hegde Ayushi, Haendel Melissa A, Valentini Giorgio, Smedley Damian, Robinson Peter N

Abstract excerpt

A critical challenge in genetic diagnostics is the computational assessment of candidate splice variants, specifically the interpretation of nucleotide changes located outside of the highly conserved dinucleotide sequences at the 5' and 3' ends of introns. To address this gap, we developed the Super Quick Information-content Random-forest Learning of Splice variants (SQUIRLS) algorithm. SQUIRLS generates a small...

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Identifiers

PMID: 34289339
DOI: 10.1016/j.ajhg.2021.06.014
PMCID: PMC8456162

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