Window-Based Genome Comparison for Visualizing Inherited Segments

The patent segments the genome into smaller analyzable units (windows or bins) along chromosomes. Each segment is independently analyzed for identity-by-descent (IBD) sharing, transforming the overwhelming task of comparing entire genomes into manageable chunk-by-chunk analysis. This segmentation allows complex genetic data to be processed systematically while maintaining comprehensive coverage of the genome.

The patent creates simplified visual representations (copies) of complex genetic data through standardized symbols and colors. Instead of displaying raw DNA sequence data, the system generates visual copies using colored blocks representing different IBD sharing states, making genetic information accessible and interpretable without requiring deep expertise in genomics.

The patent performs preliminary filtering and preprocessing of genetic data before detailed comparison. Genotypes are pre-processed to identify potential IBD regions, and the genome is pre-segmented into windows with predetermined parameters. This preliminary action reduces the computational burden of subsequent detailed analysis while maintaining detection accuracy.

The patent analyzes only the necessary portions of the genome at full resolution, using a two-tier approach where not all regions require the same level of detailed examination. By focusing computational resources on regions showing potential IBD sharing and using window-based sampling, the system achieves accurate detection without unnecessarily analyzing every base pair at maximum detail.

The patent uses a color-coded symbol system to represent different states of genetic identity-by-descent sharing. Colored blocks (e.g., green for complete IBD, yellow for partial IBD, red for no IBD) provide an intuitive visual language that allows users to quickly interpret complex genetic relationships without needing to understand raw genotype data or statistical metrics.

The patent transforms one-dimensional genetic sequence data into a two-dimensional visual representation displayed along chromosome diagrams. This dimensional transformation allows comprehensive genetic information to be presented in a spatially organized format that mirrors the physical structure of chromosomes, making it easier to visualize and interpret genetic sharing patterns across the entire genome.

The patent divides the entire genome into chromosome-level segments and further into smaller analysis windows, enabling systematic processing of comprehensive genetic data. This hierarchical segmentation allows the system to manage complete genome coverage while breaking down the computational task into organized, manageable units that can be processed independently and then integrated.

The patent implements a universal window-based analysis framework that can be applied consistently across all chromosomes and genetic data types. This multi-functional approach uses the same core algorithms and visualization methods regardless of the specific chromosome or individual being analyzed, simplifying the system architecture while maintaining comprehensive analytical capability.