Rosario Carmona

AFQuery: a bitmap-indexed, capture-aware allele frequency engine for clinical genomics cohorts

AFQuery computes capture-aware allele frequencies for clinical genomics cohorts, reducing errors and bias in variant classification.

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

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.

SMN1 copy-number and sequence variant analysis from next generation sequencing data

SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.