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Related Experiment Video

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Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Renata H Benjamin1, Xiao Yu1,2, Maria Luisa Navarro Sanchez1

  • 1Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.

Birth Defects Research
|July 18, 2019
PubMed
Summary

This study introduces CODA, an R-based platform for analyzing birth defect co-occurrence patterns. CODA efficiently identifies associations, aiding in understanding potential shared causes of birth defects.

Keywords:
birth defectsmultiple congenital anomaliesregistriessoftwaresyndromes

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Area of Science:

  • Genetics and Genomics
  • Public Health
  • Biostatistics

Background:

  • Systematic evaluation of birth defect co-occurrence patterns is limited.
  • Lack of specialized software hinders large-scale analysis of complex birth defect data.

Purpose of the Study:

  • To introduce the "co-occurring defect analysis" (CODA) platform, an R-based tool for analyzing birth defect co-occurrence patterns in registries.
  • To demonstrate the feasibility and efficiency of CODA in analyzing large birth defect datasets.

Main Methods:

  • Developed an R-based platform (CODA) utilizing an established algorithm for observed-to-expected ratios.
  • Accounted for nonspecific co-occurrence tendencies in birth defect analysis.
  • Evaluated computational time for 2- to 5-way combinations in the Texas Birth Defects Registry (1999-2014).

Main Results:

  • Analyzed 175 major birth defects in 206,784 infants from the Texas Birth Defects Registry.
  • CODA efficiently analyzed 1.5 million 5-way combinations in 18 hours.
  • Identified significant observed-to-expected ratios for defects co-occurring with trisomy 21 and non-syndromic spina bifida.

Conclusions:

  • CODA is a valuable tool for analyzing birth defect co-occurrence patterns in large datasets.
  • Findings can help identify new associations and provide etiological insights into shared pathogenic mechanisms.
  • CODA has potential applications beyond birth defects, including analysis of other large medical datasets.