Near perfect identification of half sibling versus niece/nephew avuncular pairs without pedigree information or genotyped relatives
We present a novel computational framework that achieves near-complete separation of HS and N/A pairs using only genotype data. Our approach utilizes across-chromosome phasing to derive haplotype-level sharing features that summarize how IBD is distributed across parental homologues. By modeling these features with a Gaussian mixture model (GMM), we demonstrate near-perfect classification accuracy (> 98%) in biobank-scale data. Furthermore, we show that these high-confidence relationship labels can serve as long-range phasing anchors, providing structural constraints that improve the accuracy of across-chromosome homologue assignment. This method provides a robust, scalable solution for pedigree reconstruction and the control of cryptic relatedness in large-scale genomic studies.
Authors
- Kristen M. Kelly (ORCID: https://orcid.org/0000-0003-3631-3730)
- Emmanuel Sapin (ORCID: https://orcid.org/0000-0002-7188-3715)
- Matthew C Keller
Institutions
- University of Colorado Boulder (US)
- University of Colorado System (US)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-01-07
- DOI
- https://doi.org/10.64898/2026.01.06.697070
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00