CV

Education

Ph.D in Bioinformatics and Biostatistics, Copenhagen University (Denmark), 2025
M.S. in Cellular and Molecular Biotechnology, University of Trento (Italy), 2019
B.S. in Biotechnology, University of Padova (Italy), 2017

Work experience

Jan 2025 - Present: Postdoctoral Researcher
- Institute of Biological Psychiatry (Copenhagen, Denmark)
- Supervisor: Andrés Ingason
  - Designed, curated, and maintained high-quality CNVs (copy number variants) and SCAs (sex chromosome aneuploidies) datasets across three large Danish biobanks (DBDS, CHB, iPSYCH), supporting downstream association and biomarker analyses.
  - Developed and maintained an internal interactive web application for CNV call validation, improving efficiency and consistency of routine genomic QC workflows.
  - Initiated and contributed to a collaborative project on genetic biomarkers of migraine, integrating population-scale genetics with disease-focused research questions.
  - Contributed to supervision and mentoring of junior researchers, supporting project design, analysis, and reproducible research practices.
June 2021 - January 2025: PhD Researcher
- Institute of Biological Psychiatry / Copenhagen University (Denmark)
- Supervisors: Thomas Werge, Andrés Ingason
  - Led large-scale association studies of CNVs in population cohorts, including a focused analysis of exonic deletions at the NRXN1 locus, resulting in a first author publication.
  - Developed a machine learning–based method for automated CNV validation using computer vision (CNNs), enabling scalable and standardized QC across biobank-scale datasets; released as an R package and methods publication.
  - Conducted in-depth analyses of CNVs in the genome (LOH intolerant genes, conserved/constrained regions and genes, deletions vs duplications) to support biological interpretation of structural variants.
  - Established and led a long-term international collaboration with deCODE genetics (Iceland), working closely with industry-scale datasets and multidisciplinary research teams.
  - Extensive hands-on experience with multiple large human genetics resources, including iPSYCH, UK Biobank, and deCODE trio datasets.
January 2021 - June 2021: Research Assistant
- Institute of Biological Psychiatry (Copenhagen, Denmark)
- Supervisor: Andrés Ingason
  - Optimized and standardized CNV calling pipelines for large population cohorts.
  - Converted custom scripts and manual steps into reproducible, peer-reviewed workflows.
  - Containerized analysis software (Docker, Singularity) and deployed pipelines on HPC systems (SLURM, PBS).
  - Applied optimized pipelines to the iPSYCH cohort (>140,000 individuals), contributing to downstream analyses and publications.
February 2019 - January 2021: MSc Intern / Research Assistant
- Laboratory of Neurogenomic Biomarkers, University of Trento (Italy)
  - Performed CNV detection and family-based association analyses in trio and quartet datasets from European and North American cohorts (ITAN, SPARK).
  - Integrated multi-omics datasets including SNP arrays, WES/WGS, and RNA-seq.
  - Developed early expertise in R, HPC environments, and Linux-based workflows.
  - Published an R-package distributed via Bioconductor.

Skills

Programming & Infrastructure
- R (advanced analysis, package development, data.table, ggplot2)
- Linux/Bash, Python
- HPC environments (SLURM, PBS)
- Workflows automation and scalable pipelines
Data Science & Machine Learning
- Statistical modelling (GLM, GAM, GLMM, survival models, multivariate analysis, meta-analysis)
- Large-scale association testing
- Machine learning for genomics (CNNs, automated variant validation)
- Simulations and power analysis
Human Genetics & Genomics
- CNV analysis, GWAS, population and statistical genetics
- Large-scale biobank analyses (iPSYCH, UK Biobank, deCODE)
- Variant interpretation and disease association studies
Biobanks & Health registries data
- Real-word data cleaning (e.g. data missingness or incoherence)
- Knowledge of biobank limitations (e.g. participation/volunteers bias)
- Control of microdata / personally identifiable information (GDPR)
Reproducibility & Deployment
- Git-based development
- Conda environments
- Containerization (Docker, Singularity)
- Interactive tools (R Shiny)
Communication
- Scientific writing and peer review
- Technical and non-technical reports, manuals and presentations
Collaboration & Leadership
- Project leadership in multi-site collaborations
- Supervision and mentoring of junior scientists