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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: Trends Mol Med. 2021 Jan 8;27(8):792–806. doi: 10.1016/j.molmed.2020.12.008

Fig. 2. Strategies to identify genetic variants causing human infertility.

Fig. 2

A. Conventional forward genetic approaches identify variants associated with disease, using SNP arrays or HTS. Follow-up experimental validation studies focus on potentially causative variants in the associated genetic intervals, and whether they affect expression of a nearby gene (regulatory variants) or coding regions of genes. B. In a reverse approach, the nsSNPs within genes known to be required for gametogenesis and fertility are retrieved from public variant databases. After in silico prediction, the deleterious nsSNPs are tested via in vitro screening and/or modeling in mice.