Manuel Torres-Diz

Identifying Putative Pathogenic Non-Coding Variants in Unresolved Rare Disease Patients Using Topologically Associated Domains

The paper introduces GAVURD, a system to identify putative pathogenic non-coding variants in unresolved rare disease patients using trio whole genome sequencing and TAD data, and identifies six potentially causal variants in ten probands.

The ancestral haplotype of P2RX5 yields a B-cell surface marker and a multi-lineage immunotherapy target

The paper identifies P2RX5 as a new B-cell surface marker and multi-lineage immunotherapy target, showing its expression in B-cell malignancies and T-cell leukemia, and demonstrating the efficacy of P2RX5-directed therapies.

High-throughput mutagenesis identifies mutations and RNA binding proteins controlling CD19 splicing and CART-19 therapy resistance

The paper identifies mutations and RNA-binding proteins affecting CD19 splicing and CART-19 therapy resistance through high-throughput mutagenesis and mathematical modeling.