ExIBD

ExIBD detects identical-by-descent (IBD) segments in exome sequencing data to enable identification of recent shared ancestry and cryptic population structure.

Key Features:

• Robust Detection: Employs an approach tailored for high-coverage exome sequencing to identify IBD segments that may be missed by genome-wide methods.
• Performance Evaluation: Has been rigorously evaluated for accuracy and reliability across diverse datasets.
• Application to Large Datasets: Applied to high-coverage exomes from 6,515 individuals of European and African American descent.
• Insight into Population History: Constructs IBD networks from pairwise IBD patterns and applies graph theory to reveal recent population history and cryptic structure.
• Facilitation of Downstream Analyses: Produces exome-derived IBD segments to support population genetics, evolutionary biology, and disease gene mapping.

Scientific Applications:

• Population Genetics: Infers historical migrations and admixture by analyzing shared IBD segments.
• Adaptive Evolution Studies: Identifies shared genomic regions and candidate loci under selection through IBD sharing.
• Disease Gene Mapping: Pinpoints IBD segments that may harbor disease-related genes to aid mapping of genetic variants associated with disease.

Methodology:

Detects IBD segments from exome sequencing data using methods tailored for high-coverage exomes, constructs IBD networks from pairwise IBD patterns, applies graph theory to analyze those networks, and includes performance evaluation for accuracy and reliability.