Mendelian Gene Discovery: Fast and Furious with No End in Sight.

ABSTRACT: Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.

SUBMITTER: Bamshad MJ 

PROVIDER: S-EPMC6731362 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature