Francesco Marchetti

A robust mutation spectrum analysis framework for high-depth error-corrected sequencing data

The paper introduces a statistical framework to analyze mutation spectra in error-corrected sequencing data, showing it maintains Type I error control and greater power than existing methods.

Dose-related Mutagenic and Clastogenic Effects of Benzofluoranthene in Mouse Somatic Tissues Detected by Duplex Sequencing and the Micronucleus Assay

This study assesses the mutagenic and clastogenic effects of benzo[b]fluoranthene in mice using Duplex Sequencing and the micronucleus assay, showing dose-dependent increases in mutation frequency and cancer-related mutation spectra.

Duplex Sequencing Provides Detailed Characterization of Mutation Frequencies and Spectra in the Bone Marrow of MutaMouse Males Exposed to Procarbazine Hydrochloride

This study uses Duplex Sequencing to assess mutation frequencies and spectra in MutaMouse bone marrow after procarbazine exposure, showing its advantages over conventional assays.

Error-corrected Duplex Sequencing enables direct detection and quantification of mutations in human TK6 cells with remarkable inter-laboratory consistency

This study demonstrates that error-corrected Duplex Sequencing reliably detects and quantifies mutations in human TK6 cells across different laboratories and time points.

SEQUENCING CHEMICALLY INDUCED MUTATIONS IN THE MUTAMOUSE LACZ REPORTER GENE IDENTIFIES HUMAN CANCER MUTATIONAL SIGNATURES

Mutagenicity of folic acid deficiency and supplementation is tissue-specific and results in distinct mutation profiles

This study examines how folic acid deficiency and supplementation affect mutation rates in bone marrow and colon, revealing tissue-specific mutagenic effects.