Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Abstract excerpt

Individuals living with rare diseases often undergo a frustrating and expensive diagnostic odyssey. Clinical geneticists who analyze exome or genome sequencing data from rare disease patients often encounter a list of variants of uncertain significance (VUS) in known disease-causing genes or rare variants in genes of uncertain significance (GUS) that are difficult to interpret, even with the integration of the...

Topics

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

• Share to Drosophila melanogaster
• Share to Genetic Variation