Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Cynthia S GubbelsGrace E VanNoyJill A MaddenDeborah CopenheaverSandra YangMonica H WojcikNina B GoldCasie A GenettiJoan StolerRichard B ParadSergei RoumiantsevOlaf BodamerAlan H BeggsJane JuusolaPankaj B AgrawalTimothy W Yu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures, and informing medical care.

Keyphrases

single cell
copy number
low birth weight
loop mediated isothermal amplification
case report
high resolution
gene expression
mass spectrometry
genome wide
dna methylation
quantum dots