We are analyzing https://link.springer.com/article/10.1007/s00439-020-02202-x.

Title:
Disease gene discovery in male infertility: past, present and future | Human Genetics
Description:
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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Keywords {🔍}

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Questions {❓}

Given the enormous potential of new genomic technologies in both research and diagnostics, how can we most efficiently improve our understanding of the genetics of male infertility?
Soraggi S, Riera M, Rajpert-De Meyts E et al (2020) Evaluating genetic causes of azoospermia: what can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?

Schema {🗺️}

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