Samuel Valentini

NGSTroubleFinder detects and quantifies contamination and kinship in human NGS data, providing detailed reports for data integrity.

The paper identifies a tranSNP in DDIT4 mRNA that affects translation efficiency and modulates p53-dependent responses in cancer cells.

3Dmapper maps annotated protein positions and variants to protein structures efficiently and reliably for large-scale genomic data analysis.

This study quantifies how AlphaFold's structural models increase human proteome coverage from 48% to 76% and reduce the dark proteome from 26% to 10%.