VarSight: prioritizing clinically reported variants with binary classification algorithms

VarSight: prioritizing clinically reported variants with binary classification algorithms

Abstract 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. Howeve...

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Bibliographic Details
Main Authors: James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Bioinformatics
Subjects:
Clinical genome sequencing
Variant prioritization
Binary classification
Online Access:http://link.springer.com/article/10.1186/s12859-019-3026-8

Internet

http://link.springer.com/article/10.1186/s12859-019-3026-8

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