Pedro Tomaz da Silva

The paper benchmarks variant effect scores using UK Biobank data on ultra-rare variant carriers, showing coding and splicing scores better predict protein abundance and traits than transcriptional regulation models.

This paper introduces nucleotide dependency analysis to identify genomic functional elements, showing it outperforms existing methods in detecting regulatory elements and RNA structures.

The paper shows that aging in killifish brains reduces basic amino acid-rich proteins through translation pausing, not transcription or proteasome issues, revealing a vulnerability in nucleic-acid protein biogenesis.

The paper shows codon optimality affects mRNA stability across human tissues, with energy metabolism and age modulating this effect.