Visual Analysis of Tracts of Homozygosity in Human Genome

Abstract

We propose a new visual analytics system designed for genetic researchers to study genome-wide homozygosity regions. Finding significant tracts of homozygosity (TOH) using single nucleotide polymorphisms (SNPs) from a large-scale genome data set can contribute to the discovery of genetic factors related to human diseases. Our system helps users to visually examine TOH clusters computed from the underlying patient data, lending itself a convenient and powerful tool for knowledge discovery. We illustrate the usability and performance of the system with a clinical data set of human cancers.