Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Marie HullyTommaso Lo BarcoAnna KaminskaGiulia BarciaClaude CancesCyril MignotIsabelle DesguerreNicolas GarcelonEdor KabashiRima Nabbout

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

This innovative application of database clustering clinical features could advance identification of patients with rare and common genetic conditions and detect with high accuracy the natural history of patients harboring similar genetic pathogenic variants.

Keyphrases

copy number
end stage renal disease
newly diagnosed
ejection fraction
genome wide
prognostic factors
adverse drug
high throughput
electronic health record
big data
gene expression
rna seq
patient reported