Mendelian gene discovery: fast and furious with no end in sight
The American Journal of Human Genetics, 2019•cell.com
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.
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.
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.
cell.com
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