CORGi

CORGi detects and characterizes complex local genomic rearrangements and structural variants using graph-search analysis of long-read sequencing alignments.

Key Features:

• Complex Structural Variant Detection: Identifies local genomic rearrangements and structural variants involving overlapping or nested breakpoints.
• Long-Read Sequencing Analysis: Utilizes long-read sequencing data capable of spanning multiple breakpoints within genomic regions.
• Graph-Based Rearrangement Modeling: Applies graph-search techniques to represent and interpret complex structural variant configurations.
• Breakpoint Characterization: Detects and labels structural variant breakpoints with high-resolution local rearrangement descriptions.
• Rearrangement Visualization: Generates visual representations of structural variant configurations derived from detected rearrangements.

Scientific Applications:

• Structural Variant Analysis: Investigates complex genomic rearrangements associated with structural variation.
• Cancer Genomics: Identifies complex rearrangement patterns contributing to tumor genome instability.
• Genomic Variation Studies: Characterizes local structural variation in germline and somatic genomes using long-read sequencing datasets.

Methodology:

CORGi analyzes pairwise alignments from long-read sequencing data and applies graph-search algorithms to detect, label, and visualize complex local structural variants and genomic rearrangements.