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

BACKGROUND: 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 exon...

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Detalles Bibliográficos
Autores principales: Cormier, Michael J., Pedersen, Brent S., Bayrak-Toydemir, Pinar, Quinlan, Aaron R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664736/
https://www.ncbi.nlm.nih.gov/pubmed/36376793
http://dx.doi.org/10.1186/s12859-022-05041-x

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