Daniel López-López

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

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.

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

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

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