Pier Francesco Palamara

Reference-based phasing using the Haplotype Reference Consortium panel

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

ARGON: fast, whole-genome simulation of the discrete time Wright-Fisher process

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

Fast and accurate long-range phasing in a UK Biobank cohort

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.

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

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.