Vinícius H. Franceschini-Santos

Vinícius H. Franceschini-Santos

Division of Molecular Genetics
Netherlands Cancer Institute
The Netherlands

About

Since 2017, I've been developing and applying data analysis and machine learning tools to solve biological questions in different fields of biology, such as Evolution, Biochemestry, Molecular Biology, Systems Biology, and Gene Regulation.

Currently, I am the bioinformatician of the Bas van Steensel lab, where we develop new technologies to understand gene regulation better.

In this context, I'm mainly responsible for developing AI tools, visualization methods, automated pipelines, and statistical frameworks that follow these technologies.

Interests: Bioinformatics; Computational Biology; Deep Learning; Systems Biology; Evolution

Computational Tools

PARM: Promoter Activity Regulatory Model

AI Gene Regulation Python

PARM is a deep learning model that predicts the promoter activity from the DNA sequence itself. We trained PARM on a specific type of MPRA data that allows it to predict cell-specific promoter activity in a lightweight and fast manner.

In addition to developing PARM together with my colleagues, I was responsible for performing a plethora of computational experiments with PARM to test hypotheses on transcription factors biology. I was also responsible for publishing PARM as a Bioconda package and maintaining the codebase.

primetime: Automated pipeline for detection of TF activity from barcoded reporters

Gene Regulation Snakemake R Python

Primetime is a user-friendly pipeline for analyzing transcription factor (TF) prime reporter data. My colleague developed a robust method to quantitatively detect the activity of TFs, and I developed primetime to follow this new technology.

Primetime is a snakemake pipeline that automates the processing of sequencing data, including barcode counting, clustering, annotation, and differential TF activity analysis across experimental conditions.

Domainogram

Gene Regulation R

Domainogram is an R package developed during my PhD that implements statistical tests to study lamina-associated domains (LADs). The method works by comparing the proportion of domains co-localized with known LADs.

The package uses statistical differences to validate biological findings, applying a genome rearrangement approach to compute domain statistics and incorporates analysis of gene expression differences across domain classes, providing a comprehensive approach to chromatin organization analysis.

CURE: Curation of Ultraconserved Elements

Phylogenomics Python Bash

CURE is a framework to curate UCE data for species-tree reconstruction. When dealing with UCE data, there are two main ways to cure the data. None of them was automated or efficiently suitable for large datasets.

Guided by my colleagues, I developed CURE to solve this problem. CURE is user-friendly and speeds up the curation process by parallelizing the steps.

Publications

  1. Trauernicht M.*; Franceschini-Santos, V. H.*; Yücel H.; van Steensel, B. (2025); Protocol for multiplexed transcription factor activity detection using optimized barcoded reporters and an automated computational pipeline. Submitted.
    * Equal contribution
  2. van Lieshout, T.; Carlos G. Urzúa-Traslaviña, C. G.; Barbadilla-Martínez, L.; Boi, M. C. L.; Harm-Jan Westra, H.J.; Klaassen, N.; Franceschini-Santos, V. H.; Parra-Martínez, M.; de Ridder, J.; van Steensel, B.; Voest E.; Franke, L. (2025); Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models. Submitted.
  3. Picinato, B. A.; Franceschini-Santos, V. H.; Zaramela, L.; Vêncio, R. Z. N.; Koide, T. (2025); Archaea express circular isoforms of IS200/IS605-associated ωRNAs. Submitted.
  4. Barbadilla-Martínez, L.; Klaassen, N.*; Franceschini-Santos, V. H.*; Breda, J.; Hernandez-Quiles, M.; van Lieshout, T.; Urzua Traslaviña, C.; Yücel, H.; Boi, M.; Hermana-Garcia-Agullo, C.; Gregoricchio, S.; Zwart, W.; Voest, E.; Franke, L.; Vermeulen, M.; de Ridder, J., van Steensel, B. (2024). The regulatory grammar of human promoters uncovered by MPRA-trained deep learning. BioRxiv.
    * Equal contribution
  5. Dauban, L., Eder, M., de Haas, M., Franceschini-Santos, V. H., Yañez-Cuna, J.O., van Schaik, T., Leemans, C., Rademaker, K., Martinez-Ara, M., Martinovic, M., de Wit, E., van Steensel, B. (2023); Genome-nuclear lamina interactions are multivalent and cooperative. BioRxiv
  6. Manjón, A. G., Manzo, S. G., Prekovic, S., Potgeter, L., van Schaik, T., Liu, N. Q., Flach, K., Peric-Hupkes, D., Joosten, S., Teunissen, H., Friskes, A., Ilic, M., Hintzen, D., Franceschini-Santos, V. H., Zwart, W., de Wit, E., van Steensel, B., & Medema, R. H. (2023). Perturbations in 3D genome organization can promote acquired drug resistance. Cell reports, 42(10), 113124.
  7. Freitas, F.V.; Branstetter, M.G.; Franceschini-Santos, V. H.; Dorchin, A.; Wright, K.; Lopez-Uribe, M.; Griswold, T.; Silveira, F.A.; Almeida, E.A.B. UCE phylogenomics, biogeography, and classification of long-horned bees (Hymenoptera: Apidae: Eucerini), with insights on using specimens with extremely degraded DNA. Insect Systematics and Diversity, Volume 7, Issue 4, July 2023, 3
  8. Pessoa-Lima, C.; Tostes-Figueiredo, J.; Macedo-Ribeiro, N.; Hsiou, A.S.; Muniz, F.P.; Maulin, J.A.; Franceschini-Santos, V. H.; de Sousa, F. B.; Barbosa, F., Jr.; Line, S.R.P.; et al. Structure and Chemical Composition of ca. 10-Million-Year-Old (Late Miocene of Western Amazon) and Present-Day Teeth of Related Species. Biology 2022, 11, 1636