Harnessing the full potential of reproductive genetics and epigenetics for male infertility in the era of “big data”

Male infertility research is primed for a revolution by harnessing complete phenotyping and genomic/epigenomic profiling of infertile males using systems biology.

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Volume 113, Issue 3, Pages 478–488


Darshan P. Patel, M.D., Tim G. Jenkins, Ph.D., Kenneth I. Aston, Ph.D., Jingtao Guo, Ph.D., Alexander W. Pastuszak, M.D., Ph.D., Heidi A. Hanson, Ph.D., M.S., James M. Hotaling, M.D., M.S.


The complexity of male reproductive impairment has hampered characterization of the underlying genetic causes of male infertility. However, in the last 20 years, more powerful and affordable tools to interrogate the genetic and epigenetic determinants of male infertility have accelerated the number of new discoveries in the characterization of male infertility. With this explosion of new data, integration in a systems-based approach—including complete phenotypic information—to male infertility is imperative. We briefly review the current understanding of genetic and epigenetic causes of male infertility and how findings may be translated into a practical component for the diagnosis and treatment of male infertility.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.