Abstract

Genome-wide copy-number association studies offer new opportunities to identify the mechanisms underlying complex diseases, including chronic inflammatory, psychiatric disorders and others. We have used genotyping microarrays to analyse the copy-number variants (CNVs) from 243 Caucasian individuals with Inflammatory Bowel Disease (IBD). The CNV data was obtained by using multiple quality control measures and merging the results of three different CNV detection algorithms: PennCNV, iPattern, and QuantiSNP. The final dataset contains 4,402 CNVs detected by two or three algorithms independently with high confidence. This paper provides a detailed description of the data generation and quality control steps. For further interpretation of the data presented in this article, please see the research article entitled ‘Copy number variation-based gene set analysis reveals cytokine signalling pathways associated with psychiatric comorbidity in patients with inflammatory bowel disease’.

Highlights

  • Genome-wide copy-number association studies offer new opportunities to identify the mechanisms underlying complex diseases, including chronic inflammatory, psychiatric disorders and others

  • The copy-number variants (CNVs) data was obtained by using multiple quality control measures and merging the results of three different CNV detection algorithms: PennCNV, iPattern, and QuantiSNP

  • For further interpretation of the data presented in this article, please see the research article entitled ‘Copy number variation-based gene set analysis reveals cytokine signalling pathways associated with psychiatric comorbidity in patients with inflammatory bowel disease’

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Summary

Study population

Individuals were enrolled in The Manitoba IBD Cohort Study e a population-based longitudinal study of patients with IBD [7,8]. At enrolment in the Cohort Study, participants were at least 18 years of age with a median disease duration of 4.3 years and maximal disease duration of 7 years. Participants were identified and recruited from a population-based registry, the University of Manitoba IBD Research Registry. The diagnosis of IBD was determined based on surgical, endoscopic, and histologic data. At the time of the cohort study recruitment, there were 3192 participants in the research registry. Study was approved by the University of Manitoba Health Research Ethics Board, and participants provided written informed consent. Blood samples for genotyping were obtained from a total of 269 IBD patients

Genotyping
Intensity quality control for CNV detection
Population stratification analysis
CNV calling algorithms
CNV merging
CNV filtering
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