The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Miriam S ReuterRajiv R ChaturvediEriskay ListonRoozbeh ManshaeiRitu B AulSarah BowdinIris CohnMeredith CurtisPriya DhirRobin Z HayeemsS Mohsen HosseiniReem KhanLinh G LyChristian R MarshallLuc MertensJohn B A OkelloSergio L PereiraAkshaya RaajkumarMike SeedBhooma ThiruvahindrapuramStephen W SchererRaymond H KimRebekah K Jobling

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

This data set demonstrates the diagnostic and scientific value of genome sequencing in pediatric heart disease, anticipating its role as a first-tier diagnostic test. The genetic heterogeneity will necessitate large-scale genomic initiatives for delineating novel gene-disease associations.

Keyphrases

genome wide
single cell
copy number
pulmonary hypertension
dna methylation
quality improvement
primary care
left ventricular
heart failure
gene expression
transcription factor
artificial intelligence