Noemí Toro-Barrios

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

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

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.