Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency.

Bushra GorsiEdgar HernandezMarvin Barry MooreMika MoriwakiClement Y ChowEmily CoelhoElaine TaylorClaire LuAmanda WalkerPhilippe TouraineLawrence M NelsonAmber R CooperElaine R MardisAleksander RajkovicMark YandellCorrine K Welt

Published in: The Journal of clinical endocrinology and metabolism (2021)

Candidate causative variants were identified through WES in women with POI. Aggregating clinical data and genetic risk with a categorical approach may expand the genetic architecture of heterozygous rare gene variants causing risk for POI.

Keyphrases

copy number
genome wide
dna methylation
early onset
gene expression
machine learning
transcription factor
data analysis
breast cancer risk