International Journal of Academic Health and Medical Research (IJAHMR)   Year: 2020 | Volume: 4 | Issue: 12 | Page No.: 60-71 Case-Control Genetic Association Investigated the Relationship between Copy Number Variants and Non-Syndromic Obstructive Heart Defect Risk Hafiz Muhammad Sufyan, Humza Anwar, Rizwan Jamil Abstract: This case-control genetic association study investigated the relationship between copy number variants (CNV) and non-syndromic obstructive heart defect risk. Genotype data from 570 infants with left- and right-sided obstructive heart defects and 828 control infants were used for CNV discovery and statistical comparison. In this study, methods for specific aim 1 and 2 are presented. Visualization of potential mCNVs was conducted throughout construction of the pipeline and was found to be crucial with the accurate identification of mCNVs. Because of this, we maintained our probe cutoff for mCNVs to a minimum of 20 SNP probes per potential mCNV. Because centromeric and telomeric regions contain an excessive number of duplications, we removed these regions from consideration. Finally, we identified several large false positive mCNVs in our dataset and elected to remove all potential mCNVs larger than 5,000,000 bases.