Mendelian Gene Discovery: Fast and Furious with No End in Sight.
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- Record sourced from PubMed, PMID 31491408.
- Also identified by DOI 10.1016/j.ajhg.2019.07.011 and PMC identifier 6731362.
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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.
Medical subject headings
- Genome, Human
- High-Throughput Nucleotide Sequencing