Variant Score Ranker—a web application for intuitive missense variant prioritization
Abstract
Motivation The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level. Results We present a web-application, Variant Score Ranker, which enables users to rapidly...
Paper Details
Title
Variant Score Ranker—a web application for intuitive missense variant prioritization
Published Date
Apr 25, 2019
Journal
Volume
35
Issue
21
Pages
4478 - 4479
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