Article

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

2021-06-04

Abstract excerpt

A genetic etiology accounts for unexplained primary ovarian insufficiency (POI; amenorrhea with an elevated FSH level). Subjects with POI (n=291) and controls recruited for health in old age or 1000 Genomes (n=233) underwent whole exome or whole genome sequencing. Data were analyzed using a rare variant scoring method and a Bayes factor-based framework for identifying genes harboring pathogenic variants. Candidate...

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Literature Corpus work: 5c71e6db-6107-519f-a842-58cb2bc9508c
DOI: 10.1101/2021.06.02.21258048

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