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

被引：9

作者：

Ghieh, Farah ^{[1
,2
]}

Barbotin, Anne-Laure ^{[3
]}

Leroy, Clara ^{[3
]}

Marcelli, Francois ^{[3
]}

Swierkowsky-Blanchard, Nelly ^{[1
,4
]}

Serazin, Valerie ^{[1
,2
,5
]}

Mandon-Pepin, Beatrice ^{[1
,2
]}

Vialard, Francois ^{[1
,2
,5
]}

机构：

[1] Univ Paris Saclay, UVSQ, INRAE, BREED, F-78350 Jouy En Josas, France

[2] BREED, Ecole Natl Vet Alfort, F-94700 Maisons Alfort, France

[3] CHU Lille, Hop Jeanne Flandre, Inst Biol Reprod Spermiol CECOS, F-59000 Lille, France

[4] CHI Poissy St Germain Laye, Dept Gynecol Obstet, F-78300 Poissy, France

[5] CHI Poissy St Germain Laye, Dept Genet, Lab Biol Med, F-78300 Poissy, France

来源：

BASIC AND CLINICAL ANDROLOGY | 2021年 / 31卷 / 01期

关键词：

Male infertility; Whole-genome sequencing; Azoospermia; Macrozoospermia; Globozoospermia; Multiple morphological abnormalities of the flagella; HUMAN-SPERM; SPERMATOZOA; GUIDELINES; MICRODELETIONS; ASSOCIATION; DIAGNOSIS; ABSENCE; POINT;

D O I：

10.1186/s12610-021-00138-4

中图分类号：

R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

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.

引用

页数：5

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