Graciela Uría-Regojo

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

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

The paper predicts gene-rare disease associations using a network-based algorithm to improve variant prioritization and guide functional validation.