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

Am J Hum Genet. 2019 Sep 5;105(3):448-455. doi: 10.1016/j.ajhg.2019.07.011.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Genome, Human*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans