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

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2019 Sep 7

PMID 31491408

Citations 120

Authors

Michael J Bamshad

Deborah A Nickerson

Jessica X Chong

Affiliations

Soon will be listed here.

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.

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