Article
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2024
Wermers Zara, Yoo Seeley, Radenbaugh Bailey, Douglass Amber, Biesecker Leslie G, Johnston Jennifer J
Abstract excerpt
PURPOSE: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology have outlined a schema that allows for systematic classification of variant pathogenicity. Although gnomAD is generally accepted as a reliable source of population frequency data and ClinGen has provided guidance on the utility of specific bioinformatic predictors, there is no consensus source for...
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