Genetics of Male Infertility Initiative (GEMINI)

The Genetics of Male Infertility Initiative (GEMINI) project is a multi-center study designed to discover and characterize genetic variants conferring risk for male infertility. Patients enrolled in GEMINI have been clinically diagnosed with male infertility. Patients are recruited from multiple medical centers and are primarily of European ancestry. DNA from each patient is extracted from peripheral blood or saliva and used for exome sequencing. Genetic data generated by the GEMINI project has contributed to the discovery of over a dozen genes involved in human infertility. A VCF file of genetic data from GEMINI patients that have been appropriately consented will be available through dbGaP. ]]>
Inclusion criteria for the cases are men with azoospermia or extremely low sperm concentration (<5 million sperm/mL) on semen analysis.Exclusion criteria for the case group include obstruction or absence of vas deferens, varicocele of bilateral grade 2-3 or unilateral grade 3, history of cryptorchidism, radical pelvic surgery, anejaculation, spinal cord injury, radiation treatments, chemotherapy, Y chromosome microdeletions (YCMD) or karyotypic abnormalities. If karyotype and/or YCMD screening have not been performed, patients can still be enrolled, and samples can be screened for deletions/karyotypic abnormalities, however screening will be performed under research protocols, and therefore results will not be clinically reportable. The recovery of sperm through testicular biopsy does not exclude participants from this group, however the procedure performed should be reported, and histological data should be reported if available. ]]>