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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Bioinformatics
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6792253/
https://ncbi.nlm.nih.gov/pubmed/31615419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-019-3026-8
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