Claudia Cabrera

Varformer prioritizes drug targets and variants by integrating variant and gene features using a transformer model, achieving high precision across diverse benchmarks.

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

This study investigates the role of XOR-derived nitric oxide in cardiovascular health using Xdh-deleted mice, finding that reduced nitrite reductase activity leads to endothelial dysfunction and hypertension.

The paper shows that RNA prevents protein aggregation in cell lysates, and that RNA degradation leads to protein aggregation, with specific RNA structures being effective in maintaining protein solubility.

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.