MOESM1 of Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
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https://springernature.figshare.com/articles/dataset/MOESM1_of_Recommendations_for_application_of_the_functional_evidence_PS3_BS3_criterion_using_the_ACMG_AMP_sequence_variant_interpretation_framework/11491059/1
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资源简介：
Additional file 1: Odds of Pathogenicity (OddsPath) by performance of classified variant controls. Contains two tables modeling the Odds of Pathogenicity and strength of evidence based on the number of known benign and known pathogenic variants tested and the ability of the assay to correctly classify those variants, either as a perfect binary (normal/abnormal) readout (Table S1) or permitting one variant control (either benign or pathogenic) to have an indeterminate readout (Table S2).
提供机构：
Biesecker, Leslie; Cutting, Garry; Brnich, Sarah; Harrison, Steven; Tavtigian, Sean; Greenblatt, Marc; Starita, Lea; Luo, Xi; Heinen, Christopher; Berg, Jonathan; Wright, Matt; McNulty, Shannon; Kanavy, Dona; Abou Tayoun, Ahmad; Couch, Fergus
创建时间：
2020-01-01
