期刊
HUMAN GENETICS
卷 140, 期 1, 页码 7-19出版社
SPRINGER
DOI: 10.1007/s00439-020-02202-x
关键词
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资金
- National Institutes of Health [R01HD078641]
- VICI grant from The Netherlands Organization for Scientific Research [918-15-667]
- Royal Society
- Wolfson Foundation [WM160091]
- Wellcome Trust [209451]
The discovery of genes causing male infertility is crucial for improving our biological understanding, diagnostic yield, and clinical relevance of this disorder. While significant progress has been made in some areas, there is still a need to better understand the genetics of quantitative sperm defects. Technological advances and genomics approaches play a critical role in disease gene identification.
Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. While significant progress has been made in some areas, mainly in our knowledge of the genes underlying rare qualitative sperm defects, the same cannot be said for the genetics of quantitative sperm defects. Technological advances and approaches in genomics are critical for the process of disease gene identification. In this review we highlight the impact of various technological developments on male infertility gene discovery as well as functional validation, going from the past to the present and the future. In particular, we draw attention to the use of unbiased genomics approaches, the development of increasingly relevant functional assays and the importance of large-scale international collaboration to advance disease gene identification in male infertility.
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