Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.

Samantha N HartinWaheeda A HossainDavid FrancisDavid E GodlerSangjucta BarkatakiMerlin G Butler

Published in: Molecular genetics & genomic medicine (2019)

Droplet digital polymerase chain reaction is a cost-effective method that can be used to confirm the presence of microdeletions in PWS with impact on genetic counseling and recurrence risks for families.

Keyphrases

single cell
high throughput
growth hormone
genome wide
case report
human health
free survival
copy number
dna methylation
gene expression
human immunodeficiency virus
climate change