Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin classification of variants
Cole M. Williams, Jared O’Connell, William A. Freyman, Christopher R. Gignoux, Sohini Ramachandran, Amy L. Williams
The paper benchmarks haplotype phasing methods on large datasets and introduces HAPTIC, an inter-chromosomal phasing method achieving low error rates for parent-of-origin classification.
bioRxiv · May 6, 2024 · PreprintBioinformatics