Marcelo Adrian Marti

This paper improves SLiM variant pathogenicity assessment by integrating AlphaFold2-generated structures into MotSASi, enhancing prediction accuracy over existing tools.

The paper characterizes the genome of a hypervirulent C. difficile strain, identifying genes associated with pathogenesis and antibiotic resistance.

The paper analyzes local energetic frustration in protein families to uncover stability and function constraints, demonstrating its application to SARS-CoV-2 and poorly characterized proteins.

The paper improves SLiM prediction by integrating variant data and structural analysis of SAS impacts, enhancing specificity and variant classification in clinical genomics.

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

VarQ assesses the functional impact of single amino acid substitutions on protein activity, folding, and interactions using curated variants.