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Editorial
. 2021 Aug 19;31(1):21.
doi: 10.1186/s12610-021-00138-4.

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Farah Ghieh  1   2 , Anne-Laure Barbotin  3 , Clara Leroy  3 , François Marcelli  3 , Nelly Swierkowsky-Blanchard  1   4 , Valérie Serazin  1   2   5 , Béatrice Mandon-Pepin  1   2 , François Vialard  6   7   8
Affiliations
Editorial

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Farah Ghieh et al. Basic Clin Androl. .

Abstract
in English, French

Whereas the initially strategy for the genetic analysis of male infertility was based on a candidate gene approach, the development of next-generation sequencing technologies (such as whole-exome sequencing (WES)) provides an opportunity to analyze many genes in a single procedure. In order to recommend WES or whole-genome sequencing (WGS) after genetic counselling, an objective evaluation of the current genetic screening strategy for male infertility is required, even if, at present, we have to take into consideration the complexity of such a procedure, not discussed in this commentary.

RéSUMé: Alors que la stratégie actuelle d'analyse de génétique moléculaire de l'infertilité masculine est basée sur une approche dite "gène candidat", le développement des technologies de séquençage de nouvelle génération, comme le séquençage complet de l'exome (WES), offre la possibilité d'analyser de nombreux gènes en une seule technique.Afin de recommander le WES ou le séquençage complet du génome, après un conseil génétique, une évaluation objective des différentes stratégies de dépistage génétique est nécessaire, tout en prenant en considération que la complexité d'une utilisation des nouvelles technologies n'est pas abordé dans ce commentaire.

Keywords: Azoospermia; Globozoospermia; Macrozoospermia; Male infertility; Multiple morphological abnormalities of the flagella; Whole-genome sequencing.

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Conflict of interest statement

none.

References

    1. Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13(1):37. doi: 10.1186/s12958-015-0032-1. - DOI - PMC - PubMed
    1. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991;6(2):245–250. doi: 10.1093/oxfordjournals.humrep.a137315. - DOI - PubMed
    1. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet. 1992;89(5):491–496. doi: 10.1007/BF00219172. - DOI - PubMed
    1. Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. European academy of Andrology, European molecular genetics quality network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5–19. doi: 10.1111/j.2047-2927.2013.00173.x. - DOI - PMC - PubMed
    1. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992;267(13):1794–1797. doi: 10.1001/jama.1992.03480130110034. - DOI - PubMed

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