A genome sequencing program for novel undiagnosed diseases.

Cinnamon S BlossAshley A Scott-Van ZeelandSarah E TopolBurcu F DarstDebra L BoeldtGalina A EriksonKelly J BethelRobert L BjorkJennifer R FriedmanNelson HwynnBradley A PatayPaul J PockrosErick R ScottRonald A SimonGary W WilliamsNicholas J SchorkEric J Topol Ali Torkamani

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

Genome sequencing provides tangible clinical benefit for individuals with idiopathic genetic disease, not only in the context of molecular genetic diagnosis of known rare conditions but also in cases where prior clinical information regarding a new genetic disorder is lacking.

Keyphrases

genome wide
copy number
single cell
dna methylation
gene expression
health information
single molecule