COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction

Area of Science:

• Genomics
• Population Genetics
• Bioinformatics

Background:

• Accurate familial relatedness assessment is crucial for unbiased genomic studies.
• Existing pedigree reconstruction tools face limitations with large datasets, missing individuals, and admixed populations.

Purpose of the Study:

• To develop an improved tool for accurate pedigree reconstruction in large-scale genomic datasets.
• To enhance pedigree reconstruction accuracy, particularly in scenarios with high proportions of ungenotyped individuals or missing family members.

Main Methods:

• Developed combined pedigree-aware distant relatedness estimation (COMPADRE).
• Leverages pairwise relationship estimates using genome-wide identity-by-descent (IBD) sharing and shared IBD segment characteristics.
• Integrated updates from PRIMUS, ERSA, and PADRE algorithms.

Main Results:

• COMPADRE reduces candidate pedigrees and resource utilization compared to PRIMUS.
• Demonstrated increased accuracy in reconstructing pedigrees with high sample missingness.
• Achieved greater precision in a large cohort of African ancestry individuals.

Conclusions:

• COMPADRE offers significant improvements in confidence and accuracy for pedigree reconstruction.
• The tool enhances the reliability of genomic studies by providing better familial relatedness information.
• COMPADRE is freely available online for broader research application.