Jon Lerga-Jaso

The paper characterizes common human polymorphic inversions and their functional effects, showing they are enriched in functional variants and associated with phenotypic traits.

This paper develops and evaluates ensemble polygenic risk score models for disease prediction, showing improved accuracy and portability across diverse populations when combined with clinical features.

Selphi improves genotype imputation accuracy, especially for rare variants, enhancing GWAS discovery and polygenic risk scores.

Orchestra improves local ancestry inference, revealing admixture patterns in Latin Americans, Ashkenazi Jews, and selection signals in British populations.

This study identifies a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

The paper generates a comprehensive haplotype map of the Iberian population using high-coverage whole-genome sequencing, focusing on structural variants and their imputation capabilities.

The paper validates inversions in the human genome using droplet digital PCR, showing their frequency, recurrence, and functional effects across populations.

The paper studies 45 common human polymorphic inversions, showing their functional and evolutionary impact, including gene disruption and association with phenotypic traits.