Mario Cáceres

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 evaluates inversion imputation accuracy across five algorithms using whole genome sequencing and simulated data, finding that 40.4-75.5% of inversions can be imputed accurately in three human populations.

The paper quantifies bias in genetic diversity and neutrality tests caused by neutral polymorphic structural variants and proposes corrected estimators.

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

The paper uses long-read sequencing to characterize structural variants in 1,019 samples from the 1000 Genomes Project, identifying 167,291 sequence-resolved SVs and highlighting their genomic and functional implications.

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.