{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:29:51Z","timestamp":1771669791470,"version":"3.50.1"},"reference-count":52,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The androgen receptor (AR) is a nuclear receptor, encoded by the <jats:italic>AR<\/jats:italic> gene on the X chromosome. Within the first exon of the <jats:italic>AR<\/jats:italic> gene, two short tandem repeats (STR), CAG and GGC, are a source of polymorphism in the population. Therefore, high\u2010throughput methods for screening <jats:italic>AR<\/jats:italic>, such as next\u2010generation sequencing (NGS), are sought after; however, data generated by NGS are limited by the availability of bioinformatics tools. Here, we evaluated the accuracy of the bioinformatics tool HipSTR in detecting and quantify CAG repeats within the <jats:italic>AR<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>The <jats:italic>AR<\/jats:italic> gene of 228 infertile men was sequenced using NGSgene panel. Data generated were analyzed with HipSTR to detect CAG repeats. The accuracy was compared with the results obtained with Sanger.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that HipSTR was more accurate than Sanger in genotyping normal karyotype men (46,XY), however, it was more likely to misidentify homozygote genotypes in men with Klinefelter syndrome (47,XXY).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings show that the bioinformatics tool HipSTR is 100% accurate in detecting and assessing <jats:italic>AR<\/jats:italic> CAG repeats in infertile men (46,XY) as well as in men with low\u2010level mosaicism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1207","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T03:10:06Z","timestamp":1585192206000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the <i>AR<\/i> gene"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4794-9745","authenticated-orcid":false,"given":"Maria Santa","family":"Rocca","sequence":"first","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Ferrarini","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aichi","family":"Msaki","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Vinanzi","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"De Rocco Ponce","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6576-2183","authenticated-orcid":false,"given":"Carlo","family":"Foresta","sequence":"additional","affiliation":[{"name":"Unit of Andrology and Reproductive Medicine Department of Medicine University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Ferlin","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.111.013391"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31349"},{"issue":"3","key":"e_1_2_8_4_1","first-page":"446","article-title":"Longer trinucleotide repeats of androgen Receptor Gene: Infertility in males","volume":"69","author":"Ashraf M.","year":"2019","journal-title":"The Journal of the Pakistan Medical Association"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.13980.1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/22.15.3181"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-14-144"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1621\/nrs.06008"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-018-1505-2"},{"issue":"1","key":"e_1_2_8_10_1","first-page":"3","article-title":"Androgen receptor structure, function and biology: From bench to bedside","volume":"37","author":"Davey R. 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