P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Autor: Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)
Druh dokumentu: article
ISSN: 2949-7744
DOI: 10.1016/j.gimo.2024.101080
Databáze: Directory of Open Access Journals