Alejandro Ferrer

Functional Characterization of Myeloid Neoplasm-associated DDX41 Variants Reveals Pathogenic Interaction with Acquired Hotspot Mutation

The paper functionally characterizes DDX41 variants, showing some non-truncating germline variants are susceptible to dominant-negative effects by the somatic hotspot mutation p.R525H.

Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential

UNISOM improves CHIP detection from low-coverage sequencing data by combining variant calling with machine learning classification, identifying low-VAF mutations with high sensitivity.