Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Francois LecoquierreYannis DuffourdAntonio Vitobello Ange-Line BruelBenoit UrteagaChristine CoubesPhilippine Garret Sophie Nambot Martin Chevarin Thibaud Jouan Sebastien Mouttonnull nullFrédéric Tran-Mau-ThemChristophe Philippe Arthur Sorlin Laurence Olivier-FaivreChristel Thauvin-Robinet

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Annotation of local variants with denovo-db can highlight missense variants with high potential for pathogenicity, both facilitating the time-consuming reanalysis process and allowing novel DD gene discoveries.

Keyphrases

copy number
genome wide
intellectual disability
dna methylation
electronic health record
risk assessment
machine learning
big data
pseudomonas aeruginosa
rna seq
climate change
candida albicans