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However, many mechanisms of infertility remain unclear due to the lack of studies based on systematic knowledge, leading to ineffective treatment and\/or transmission of genetic defects to offspring. Here, we developed an infertility disease database to provide a comprehensive resource featuring various factors involved in infertility. Features in the current IDDB version were manually curated as follows: (i) a total of 307 infertility-associated genes in human and 1348 genes associated with reproductive disorder in 9 model organisms; (ii) a total of 202 chromosomal abnormalities leading to human infertility, including aneuploidies and structural variants; and (iii) a total of 2078 pathogenic variants from infertility patients\u2019 samples across 60 different diseases causing infertility. Additionally, the characteristics of clinically diagnosed infertility patients (i.e. causative variants, laboratory indexes and clinical manifestations) were collected. To the best of our knowledge, the IDDB is the first infertility database serving as a systematic resource for biologists to decipher infertility mechanisms and for clinicians to achieve better diagnosis\/treatment of patients from disease phenotype to genetic factors. The IDDB is freely available at http:\/\/mdl.shsmu.edu.cn\/IDDB\/.<\/jats:p>","DOI":"10.1093\/nar\/gkaa753","type":"journal-article","created":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T11:10:18Z","timestamp":1598699418000},"page":"D1218-D1224","source":"Crossref","is-referenced-by-count":39,"title":["IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility"],"prefix":"10.1093","volume":"49","author":[{"given":"Jing","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Assisted Reproduction, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200011, China"},{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danjun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200011, China"},{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Liu","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Li","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinheng","family":"He","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiale","family":"Wei","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Li","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyu","family":"Li","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashfaq Ur","family":"Rehman","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujia","family":"Xia","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengwei","family":"Wu","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6558-791X","authenticated-orcid":false,"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Medicinal Bioinformatics Center, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200025, China"},{"name":"School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou 450001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,9,17]]},"reference":[{"key":"2021010313132849800_B1","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.clinbiochem.2018.03.012","article-title":"Fertility and infertility: Definition and epidemiology","volume":"62","author":"Vander\u00a0Borght","year":"2018","journal-title":"Clin. Biochem."},{"key":"2021010313132849800_B2","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1093\/humupd\/dmp012","article-title":"Approaches to improve the diagnosis and management of infertility","volume":"15","author":"Devroey","year":"2009","journal-title":"Hum. Reprod. Update"},{"key":"2021010313132849800_B3","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"Krausz","year":"2018","journal-title":"Nat. Rev. Urol."},{"key":"2021010313132849800_B4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s12958-018-0330-5","article-title":"Genetics of the human Y chromosome and its association with male infertility","volume":"16","author":"Colaco","year":"2018","journal-title":"Reprod. Biol. Endocrinol."},{"key":"2021010313132849800_B5","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1093\/humupd\/dmn009","article-title":"Genetic aspects of female reproduction","volume":"14","author":"Group","year":"2008","journal-title":"Hum. Reprod. Update"},{"key":"2021010313132849800_B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41436-020-0916-0","article-title":"A genomics approach to male infertility","volume":"22","author":"Alhathal","year":"2020","journal-title":"Genet. Med"},{"key":"2021010313132849800_B7","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1093\/humupd\/dmr033","article-title":"Contemporary genetic technologies and female reproduction","volume":"17","author":"Evian Annual Reproduction Workshop, G.","year":"2011","journal-title":"Hum. Reprod. 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