Mendelian Gene Discovery: Fast and Furious with No End in Sight.
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ABSTRACT:
SUBMITTER: Bamshad MJ
PROVIDER: S-EPMC6731362 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Publications
Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Bamshad Michael J MJ Nickerson Deborah A DA Chong Jessica X JX
American journal of human genetics 20190901 3
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. ...[more]
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