Genetic & Genomic MedicinemedRxivPreprint
AFQuery: a bitmap-indexed, capture-aware allele frequency engine for clinical genomics cohorts
Gabriel Santos-Díaz, Noemí Toro-Barrios, Rosario Carmona…·Daniel López-López
AFQuery computes capture-aware allele frequencies for clinical genomics cohorts, reducing errors and bias in variant classification.
DOI 10.64898/2026.05.15.26353174