Case-level data sharing makes a difference in variant classification

Chora, J.R.; Tichý, L.; Lacocca, M.A.; Freiberger, T.; Bourbon, M.

http://hdl.handle.net/10400.18/8109

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Abstract(s)

The American College of Medical Genetics and Genomics guidelines for variant classification are composed of several evidence criteria that, when combined, lead to a 5-tier pathogenicity variant classification. Several criteria rely on case-level data from patients, relatives, or controls with or without a particular variant of interest. (...)