ArticleBirth defects research2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
Article in Birth defects research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.Birth defects research · 2025Article
- Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries.Birth defects research · 2024Article
- Surveillance of multiple congenital anomalies; searching for new associations.European journal of human genetics : EJHG · 2024Review
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.medRxiv : the preprint server for health sciences · 2024Article
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Patterns of co-occurring birth defects in children with anotia and microtia.American journal of medical genetics. Part A · 2023Article
- Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.Birth defects research · 2023Article
- Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- Birth defect co-occurrence patterns in the Texas Birth Defects Registry.Pediatric research · 2022Article
- Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011.American journal of medical genetics. Part A · 2022Article
- Epidemiology of Birth Defects in Eastern China and the Associated Risk Factors.Medical science monitor : international medical journal of experimental and clinical research · 2022Article
- A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.Ophthalmic epidemiology · 2021Article
- Patterns of congenital anomalies among individuals with trisomy 13 in Texas.American journal of medical genetics. Part A · 2021Article
- Causes of neonatal and postneonatal death among infants with birth defects in Texas.Birth defects research · 2021Article
- Patterns of co-occurring birth defects among infants with hypospadias.Journal of pediatric urology · 2021Article
- Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.American journal of medical genetics. Part A · 2020Article
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Authors and funding
16 authors.
Funding
Abstract
backgroundFew studies have systematically evaluated birth defect co-occurrence patterns, perhaps, in part, due to the lack of software designed to implement large-scale, complex analytic methods.
methodsWe created an R-based platform, "co-occurring defect analysis" (CODA), designed to implement analyses of birth defect co-occurrence patterns in birth defect registries. CODA uses an established algorithm for calculating the observed-to-expected ratio of a given birth defect combination, accounting for the known tendency of birth defects to co-occur nonspecifically. To demonstrate CODA's feasibility, we evaluated the computational time needed to assess 2- to 5-way combinations of major birth defects in the Texas Birth Defects Registry (TBDR) (1999-2014). We report on two examples of pairwise patterns, defects co-occurring with trisomy 21 or with non-syndromic spina bifida, to demonstrate proof-of-concept.
resultsWe 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-way combinations in 18 hr. As anticipated, we identified large observed-to-expected ratios for the birth defects that co-occur with trisomy 21 or spina bifida.
conclusionsCODA is available for application to birth defect data sets and can be used to better understand co-occurrence patterns. Co-occurrence 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-occurrence patterns in other large data sets (e.g., medical records).
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