Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Haengun JinJuWon AhnYoungJoon ParkJeongMin SimHan Sung ParkChang Soo RyuNam Keun KimKyuBum Kwack

Published in: BMC medical genomics (2020)

WES is a useful tool to detect genetic variants that cause POF. Accumulation and systematic management of data from a number of WES studies in specialized groups of patients with POF (family data, severe case populations) are needed to better comprehend the genetic landscape underlying POF.

Keyphrases

electronic health record
copy number
big data
palliative care
early onset
genome wide
dna methylation
artificial intelligence
case control
drug induced
bioinformatics analysis