A systematic review and standardized clinical validity assessment of male infertility genes.

ABSTRACT:

Study question

Which genes are confidently linked to human monogenic male infertility?

Summary answer

Our systematic literature search and clinical validity assessment reveals that a total of 78 genes are currently confidently linked to 92 human male infertility phenotypes.

What is known already

The discovery of novel male infertility genes is rapidly accelerating with the availability of next-generating sequencing methods, but the quality of evidence for gene-disease relationships varies greatly. In order to improve genetic research, diagnostics and counseling, there is a need for an evidence-based overview of the currently known genes.

Study design, size, duration

We performed a systematic literature search and evidence assessment for all publications in Pubm

SUBMITTER: Oud MS 

PROVIDER: S-EPMC6505449 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature