Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Caroline Fiona WrightPatrick CampbellRuth Y EberhardtStuart AitkenDaniel PerrettSimon BrentPetr DanecekEugene J GardnerV Kartik ChundruSarah J LindsayKatrina AndrewsJuliet HampsteadJoanna KaplanisKaitlin E SamochaAnna MiddletonJulia ForemanRachel J HobsonMichael J ParkerHilary C MartinDavid R FitzPatrickMatthew E HurlesHelen V Firthnull null

Published in: The New England journal of medicine (2023)

Among probands with severe, probably monogenic, difficult-to-diagnose developmental disorders, multimodal analysis of genomewide data had good diagnostic power, even after previous attempts at diagnosis. (Funded by the Health Innovation Challenge Fund and Wellcome Sanger Institute.).

Keyphrases

healthcare
public health
health insurance
electronic health record
mental health
pain management
big data
early onset
copy number
health information
health promotion
risk assessment
human health
data analysis
gene expression
cross sectional