{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["38(4)"],"submitter":["Liu X"],"pubmed_abstract":["<h4>Purpose</h4>To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).<h4>Methods</h4>Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.<h4>Results</h4>A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 1"],"journal":["Journal of assisted reproduction and genetics"],"pagination":["941-948"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8079584"],"repository":["biostudies-literature"],"pubmed_title":["Y chromosome structural variation in infertile men detected by targeted next-generation sequencing."],"pmcid":["PMC8079584"],"pubmed_authors":["Liu X","Jiang Y","Zhang H","Zhang X","Liu R","Wang Y","Fei J","Yu Y"],"additional_accession":[]},"is_claimable":false,"name":"Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.","description":"<h4>Purpose</h4>To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).<h4>Methods</h4>Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.<h4>Results</h4>A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 1","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2025-04-29T11:33:34.371Z","creation":"2025-04-06T19:55:06.455Z"},"accession":"S-EPMC8079584","cross_references":{"pubmed":["33454900"],"doi":["10.1007/s10815-020-02031-x"]}}