Marta Puig

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

This study identifies and characterizes TP53 retrogenes in elephant genomes, revealing copy number differences and evolutionary patterns between African and Asian elephants.

The paper identifies 612 human inversion variants using ultra-long read sequencing and develops a bioinformatic tool to genotype them across 54 individuals.

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.