{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T18:49:38Z","timestamp":1774896578130,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["1R01HD093660\u201001A1"],"award-info":[{"award-number":["1R01HD093660\u201001A1"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Few studies have systematically evaluated birth defect co\u2010occurrence patterns, perhaps, in part, due to the lack of software designed to implement large\u2010scale, complex analytic methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We created an R\u2010based platform, \u201cco\u2010occurring defect analysis\u201d (CODA), designed to implement analyses of birth defect co\u2010occurrence patterns in birth defect registries. CODA uses an established algorithm for calculating the observed\u2010to\u2010expected ratio of a given birth defect combination, accounting for the known tendency of birth defects to co\u2010occur nonspecifically. To demonstrate CODA's feasibility, we evaluated the computational time needed to assess 2\u2010 to 5\u2010way combinations of major birth defects in the Texas Birth Defects Registry (TBDR) (1999\u20132014). We report on two examples of pairwise patterns, defects co\u2010occurring with trisomy 21 or with non\u2010syndromic spina bifida, to demonstrate proof\u2010of\u2010concept.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We evaluated combinations of 175 major birth defects among 206,784 infants in the TBDR. CODA performed efficiently in the data set, analyzing 1.5 million 5\u2010way combinations in 18\u2009hr. As anticipated, we identified large observed\u2010to\u2010expected ratios for the birth defects that co\u2010occur with trisomy 21 or spina bifida.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>CODA is available for application to birth defect data sets and can be used to better understand co\u2010occurrence patterns. Co\u2010occurrence patterns elucidated by using CODA may be helpful for identifying new birth defect associations and may provide etiological insights regarding potentially shared pathogenic mechanisms. CODA may also have wider applications, such as assessing patterns of additional types of co\u2010occurrence patterns in other large data sets (e.g., medical records).<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1549","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T06:05:42Z","timestamp":1563343542000},"page":"1356-1364","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Co\u2010occurring defect analysis: A platform for analyzing birth defect co\u2010occurrence in registries"],"prefix":"10.1002","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6406-4247","authenticated-orcid":false,"given":"Renata H.","family":"Benjamin","sequence":"first","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"},{"name":"Department of Biostatistics and Data Science UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luisa","family":"Navarro Sanchez","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"},{"name":"Center for Precision Health UTHealth School of Public Health  Houston Texas"},{"name":"Center for Precision Health UTHealth School of Biomedical Informatics  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6765-4963","authenticated-orcid":false,"given":"Peter H.","family":"Langlois","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Canfield","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael D.","family":"Swartz","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Data Science UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela E.","family":"Scheuerle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Texas Southwestern Medical Center  Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School, University of Texas Health Science Center at Houston  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas"},{"name":"Heidelberg University Institute of Human Genetics  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph W.","family":"Ray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Metabolism University of Texas Medical Branch  Galveston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott D.","family":"McLean","sequence":"additional","affiliation":[{"name":"Clinical Genetics Section The Children's Hospital of San Antonio  San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0978-5863","authenticated-orcid":false,"given":"Philip J.","family":"Lupo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Hematology\u2010Oncology, Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. J.","family":"Agopian","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Human Genetics and Environmental Sciences, UTHealth School of Public Health  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1115"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-198604000-00002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23240"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<459::AID-AJMG5>3.0.CO;2-G"},{"issue":"1","key":"e_1_2_7_6_1","first-page":"1","article-title":"Update on overall prevalence of major birth defects\u2010\u2010Atlanta, Georgia, 1978\u20102005","volume":"57","author":"Centers for Disease Control and Prevention (CDC)","year":"2008","journal-title":"MMWR. 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