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

Basic and Clinical Andrology

François Marcelli¹  Clara Leroy¹  Anne-Laure Barbotin¹  Nelly Swierkowsky-Blanchard²  Farah Ghieh³  Béatrice Mandon-Pepin³  François Vialard⁴  Valérie Serazin⁴ 

[1] Institut de Biologie de la Reproduction-Spermiologie-CECOS, Hôpital Jeanne de Flandre, Centre Hospitalier et Universitaire, F -59000, Lille, France;UVSQ, INRAE, BREED, Université Paris-Saclay, F-78350, Jouy-en-Josas, France;Département de Gynécologie-Obstétrique, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France;UVSQ, INRAE, BREED, Université Paris-Saclay, F-78350, Jouy-en-Josas, France;Ecole Nationale Vétérinaire d’Alfort, BREED, F-94700, Maisons-Alfort, France;UVSQ, INRAE, BREED, Université Paris-Saclay, F-78350, Jouy-en-Josas, France;Ecole Nationale Vétérinaire d’Alfort, BREED, F-94700, Maisons-Alfort, France;Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France;

关键词: Male infertility;    Whole-genome sequencing;    Azoospermia;    Macrozoospermia;    Globozoospermia;    Multiple morphological abnormalities of the flagella;    Infertilité masculine;    Séquençage complet du génome (WES);    Azoospermie;    Macrozoospermie;    Globozoospermie;    Anomalies morphologiques multiples du flagelle;   

DOI  :  10.1186/s12610-021-00138-4

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY