Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

William P BoneNicole L WashingtonOrion J BuskeDavid R AdamsJoie DavisDavid DraperElise D Flynn Marta GirdeaRena GodfreyGretchen GolasCatherine GrodenJulius JacobsenSebastian KöhlerElizabeth M J LeeAmanda E LinksThomas C MarkelloChristopher J MungallMichele NehrebeckyPeter N RobinsonMurat SincanAriane G SoldatosCynthia J TifftCamilo ToroHeather TrangCamillo Toro Nicole A VasilevskyColleen WahlLynne A WolfeElizabeth M J LeeMichael BrudnoMelissa A HaendelWilliam A GahlDamian Smedley

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Structured phenotyping of patients and computational analysis are effective adjuncts for diagnosing patients with genetic disorders.Genet Med 18 6, 608-617.

Keyphrases

end stage renal disease
endothelial cells
newly diagnosed
ejection fraction
chronic kidney disease
copy number
prognostic factors
peritoneal dialysis
patient reported outcomes
gene expression
big data
dna methylation
artificial intelligence