Article
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.
Human genomics - 16 May 2017
Mahmood Khalid, Jung Chol-Hee, Philip Gayle, Georgeson Peter, Chung Jessica, Pope Bernard J, Park Daniel J
Abstract excerpt
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 performance metrics are confounded by serious problems of circularity and error propagation. Here, we derive three independent,...
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