Original paper

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Volume: 12, Issue: 1
Published: Mar 17, 2020
Abstract
Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has...
Paper Details
Title
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Published Date
Mar 17, 2020
Volume
12
Issue
1
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