In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

ABSTRACT: Advances in sequencing technology have made whole-genome and whole-exome datasets more accessible for both clinical diagnosis and cutting-edge human genetics research. Although a number of in silico algorithms have been developed to predict the pathogenicity of variants identified in these datasets, functional studies are critical to determining how specific genomic variants affect protein function, especially for missense variants. In the Undiagnosed Diseases Network (UDN) and other rare disease research consortia, model organisms (MO) including Drosophila, C. elegans, zebrafish, and mice are actively used to assess the function of putative human disease-causing variants. This protocol describes a method for the functional assessment of rare human variants used in the Model Organisms Scre

SUBMITTER: Harnish JM 

PROVIDER: S-EPMC7418855 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature