A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.

Brittany M WengerNihir PatelMadeline LuiArden MoscatiRon DoDouglas R StewartMarco TartagliaLaura Muiño-MosqueraJulie De BackerAmy R KontorovichBruce D Gelb

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

Substantial fractions of individuals harboring P/LP variants with partial or full phenotypic matches to a RASopathy or MFS remain undiagnosed, some not meeting diagnostic criteria. Routine population genotyping would enable multidisciplinary care and avoid life-threatening events.

Keyphrases

genome wide
quality improvement
copy number
healthcare
palliative care
clinical practice
high throughput
dna methylation
pain management
affordable care act
gene expression
chronic pain
single cell
high density