Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.

Abstract excerpt

Guidelines for variant interpretation include criteria for incorporating phenotype evidence, but this evidence is inconsistently applied. Systematic approaches to using phenotype evidence are needed. We developed a method for curating disease phenotypes as highly or moderately predictive of variant pathogenicity based on the frequency of their association with disease-causing variants. To evaluate this method's...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Testing
• Share to Genetic Variation