Javier Pérez-Florido

Unveiling the Landscape of Reportable Genetic Secondary Findings in the Spanish Population: A Comprehensive Analysis Using the Collaborative Spanish Variant Server Database

The paper analyzes genetic secondary findings in the Spanish population using the Collaborative Spanish Variant Server database, finding 5% of individuals have reportable variants in 32 ACMG-listed genes.

Characterization of the common genetic variation in the Spanish population of Navarre

The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.

The Iberian Roma genetic variant server; population structure, susceptibility to disease and adaptive traits.

The paper creates a database of genetic variants specific to Iberian Roma individuals to aid in genetic diagnosis and understand evolutionary adaptations.

From partial to whole genome imputation of SARS-CoV-2 for epidemiological surveillance

The paper develops impuSARS, a method to impute missing SARS-CoV-2 genome sequences, improving the utility of incomplete data for epidemiological surveillance.

Antibiotic resistance and metabolic profiles as functional biomarkers that accurately predict the geographic origin of city metagenomics samples