Journal article

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse

Brendan J Houston, Donald F Conrad, Moira K O'Bryan

HUMAN GENETICS | SPRINGER | Published : 2020


Male infertility is a heterogeneous condition of largely unknown etiology that affects at least 7% of men worldwide. Classical genetic approaches and emerging next-generation sequencing studies support genetic variants as a frequent cause of male infertility. Meanwhile, the barriers to transmission of this disease mean that most individual genetic cases will be rare, but because of the large percentage of the genome required for spermatogenesis, the number of distinct causal mutations is potentially large. Identifying bona fide causes of male infertility thus requires advanced filtering techniques to select for high-probability candidates, including the ability to test causality in animal mo..

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Awarded by National Health and Medical Research (NHMRC)

Awarded by National Institutes of Health

Funding Acknowledgements

This review was supported by a National Health and Medical Research (NHMRC) grant to MKOB and DFC (APP1120356). DFC was supported by the National Institutes of Health (R01HD078641).