Identification of pathogenic genomic variants in idiopathic azoospermia by long-fragmentread genome sequencing: abridged secondary publication

Identification of pathogenic genomic variants in idiopathic azoospermia by long-fragment-read genome sequencing: abridged secondary publication

Z Dong, TY Leung, JPW Chung, Y Cao

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China

We recruited 100 men with idiopathic infertility who had negative findings in karyotype analysis and Y-microdeletion testing for long-fragment-read genome sequencing (GS).
Long-fragment-read GS identified likely clinically significant variants in 32 men (19 with nonobstructive azoospermia and 13 with severe oligoasthenozoospermia); the diagnostic yield was 32.0%.
Genetic investigation of variants by long-fragment- read GS facilitates both understanding of infertility mechanisms and patient management, including sperm retrieval through testicular biopsy, intracytoplasmic sperm injection, and/or preimplantation genetic testing via in vitro fertilisation.
Long-fragment-read GS can be used as a secondtier approach for the genetic diagnosis of infertile men.