Abstract 14451: High Agreement Between a Cardiology Specific Scoring System and the ACMG Criteria for Genetic Variant Interpretation and Classification
作者
Tomas Robyns,Cuno Kuipéri,Rik Willems,Johan Van Cleemput,Dieter Nuyens,Jeroen Breckpot,Gert Matthijs,Anniek Corveleyn
出处
期刊:Circulation [Lippincott Williams & Wilkins] 日期:2016-11-11卷期号:134
Introduction: The assessment of pathogenicity of genetic sequence variants is probabilistic and remains a challenge. Recently a consensus recommendation for genetic variant interpretation and class...