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

ABSTRACT:

Background

Premature ovarian failure (POF) is a highly heterogeneous disorder that occurs in 1% of women of reproductive age. Very few causative genes and variants contributing to POF have been detected, and the disease remains incompletely understood. In this study, we used whole exome sequencing (WES) to identify potential causal variants leading to POF.

Methods

WES was conducted to identify variants in 34 Korean patients with POF, alongside 10 normal controls. Detected variants were filtered using a range of characterized bioinformatics analyses, and the machine learning tools, CADD and VEST, were used to predict pathogenic variants that could cause disease. VarSome was used for a comprehensive interpretation of the variants. Potential causal variants finally screened by

SUBMITTER: Jin H 

PROVIDER: S-EPMC7590468 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature