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

By Michael Bamshad, Deborah A. Nickerson, Jessica X. Chong. 2019

210 citations recorded by the source corpus.

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.

Subfields: Genetics, Pulmonary and Respiratory Medicine

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Anne H. O'Donnell-Luria
2. Daniel G. MacArthur
3. Matthew Solomonson

Citations in the corpus

• Variant interpretation using population databases: lessons from gnomAD (2021, methodology): “For example, haploinsufficient genes often have a high pLI score and a low LOEUF score; therefore pLoF variants occurring within LoF ‐ constrained genes are of high interest (Bamshad et al., 2019).”