VarSight: prioritizing clinically reported variants with binary classification algorithms

BACKGROUND: When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient’s phenotypes. Typically, this is done through annotation, filtering, and then prioritization of variants for manual curation. However, prior...

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Detalles Bibliográficos
Autores principales: Holt, James M., Wilk, Brandon, Birch, Camille L., Brown, Donna M., Gajapathy, Manavalan, Moss, Alexander C., Sosonkina, Nadiya, Wilk, Melissa A., Anderson, Julie A., Harris, Jeremy M., Kelly, Jacob M., Shaterferdosian, Fariba, Uno-Antonison, Angelina E., Weborg, Arthur, Worthey, Elizabeth A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792253/
https://www.ncbi.nlm.nih.gov/pubmed/31615419
http://dx.doi.org/10.1186/s12859-019-3026-8

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