Visual Analysis of Genome-wide Tracts of Homozygosity

Identification of disease variants via homozygosity mapping and investigation of the effects of genome-wide homozygosity regions on traits of biomedical importance have been widely applied recently. Nonetheless, the existing methods and algorithms to identify long tracts of homozygosity (TOH) based on single nucleotide polymorphisms (SNPs) are not able to provide efficient and rigorous regions for further downstream investigation. We develop a visual analytics system which first computes and identifies various patterned clusters of SNPs demonstrating extended homozygosity, and then provides interactive visualization for better investigation of the high-throughput output. The system is integrated with statistical analysis of association testing.