Genome sequencing as a generic diagnostic strategy for rare disease.

Gaby SchobersRonny DerksAmber den OudenHilde SwinkelsJeroen van ReeuwijkErmanno BosgoedDorien LugtenbergSu Ming SunJordi Corominas GalbanyMarjan WeissMarinus J BlokRichelle A C M Olde KeizerTom HofsteDebby HellebrekersNicole de LeeuwAlexander StegmannErik-Jan KamsteegAimee D C PaulussenMarjolijn J L LigtenbergXiangqun Zheng BradleyJohn PedenAlejandra GutierrezAdam PullenTom PayneChristian GilissenArthur van den WijngaardHan G BrunnerMarcel NelenHelger G YntemaLisenka E L M Vissers

Published in: Genome medicine (2024)

GS can capture clinically relevant germline variants in a 'GS-first strategy' for the majority of clinical indications in a genetics diagnostic lab.

Keyphrases

copy number
single cell
dna repair
genome wide
gene expression
dna methylation