Pier Francesco Palamara

This paper introduces Eagle2, a reference-based phasing algorithm that improves accuracy and speed compared to SHAPEIT2 using the Haplotype Reference Consortium panel.

ARGON simulates the discrete time Wright-Fisher process for large sample sizes and whole-chromosome scales, offering performance comparable to coalescent simulators.

This paper introduces Eagle, a fast and accurate long-range phasing method applied to the UK Biobank cohort, achieving high accuracy and speed for rare variant imputation.

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.