Article

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

2021-01-28

Abstract excerpt

<h4>ABSTRACT</h4> 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 Informationcontent Random-forest Learning of Splice variants (SQUIRLS) algorithm. SQUIRLS g...

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Literature Corpus work: ec6d0228-ead7-59f2-b540-421c338d0869
DOI: 10.1101/2021.01.28.428499

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