Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Abstract Background Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid substitutions on protein function. It is vital that we better understand their accuracies and limitations because published perfo...

Full description

Bibliographic Details
Main Authors: Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope, Daniel J. Park
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Human Genomics
Subjects:
Variant effect prediction
Functional datasets
Benchmarking
Mutation assessment
Pathogenicity prediction
Protein function
Online Access:http://link.springer.com/article/10.1186/s40246-017-0104-8

Internet

http://link.springer.com/article/10.1186/s40246-017-0104-8

Similar Items