A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.

ABSTRACT: Genetic testing is becoming increasingly required at almost every stage of failed female reproduction/infertility. Nonetheless, clinical evidence for the majority of identified gene-disease relationships is ill-defined, thus leading to difficult gene variant interpretation and poor translation of existing knowledge into clinics. We aimed to identify the genes that have ever been implicated in monogenic female reproductive failure in humans and to classify the identified gene-disease relationship pairs using a standardized clinical validity assessment. A PubMed search following PRISMA guidelines was conducted on 20 September 2021 aiming to identify studies pertaining to genetic causes of phenotypes of female reproductive failure. The clinical validity of identified gene-disease pairs was as

SUBMITTER: Volozonoka L 

PROVIDER: S-EPMC9066658 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature