Article

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

2022-03-01

Abstract excerpt

<h4>Background</h4> Despite numerous molecular and computational advances, roughly half of patients with a rare disease remain undiagnosed after exome or genome sequencing. A particularly challenging barrier to diagnosis is identifying variants that cause deleterious alternative splicing at intronic or exonic loci outside of canonical donor or acceptor splice sites. <h4>Results</h4> Several existing tools predic...

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Literature Corpus work: ac694c96-ffd0-5f0a-a43d-725e6a64bc49
DOI: 10.1101/2022.02.28.482323

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