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

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

Research output: Contribution to journalReview articlepeer-review

26 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)478-488
Number of pages11
JournalFertility and Sterility
Volume113
Issue number3
DOIs
StatePublished - Mar 2020
Externally publishedYes

Funding

This work is supported by National Institute of Health (5R01HD078641-05, awarded to KIA) and the Howard Hughes Medical Institute (P30CA042014) from the National Cancer Institute to Huntsman Cancer Institute for core facilities.

Keywords

  • Big data
  • epigenomics
  • genetic
  • genomics
  • male infertility
  • polymorphism

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