Bioinformatics · Computational Genomics · Rare Disease
Annelie De Mori
Master’s student in Bioinformatics at Université de Montréal, in the Martine Tétreault Lab at the CRCHUM. My research analyzes large whole-genome sequencing cohorts to detect repeat expansions and estimate the prevalence of rare neurological disorders in the Québec population. I’ve also worked as a teaching assistant across several bioinformatics courses.
Master of Science
Bioinformatics, Université de Montréal
2024 – 2026
Bachelor of Science
Bioinformatics, Université de Montréal
2021 – 2024
Research
Master’s Student & Research Intern · Centre de recherche du CHUM (CRCHUM) · Martine Tétreault Lab
Repeat Expansions Across the CARTaGENE Cohort
OngoingScreening 2,184 whole-genome samples from the CARTaGENE biobank for short tandem repeat expansions across 32 neurogenetic loci to estimate carrier frequencies and disease prevalence for disorders including DM1, Friedreich ataxia, and SCA27B. Basis for a first-author manuscript in preparation.
Estimating SPG7 Prevalence in Québec
PublishedIntegrated whole-genome, whole-exome, and RNA sequencing to estimate the prevalence of hereditary spastic paraplegia type 7 (SPG7) in Québec. This work is included in the published Nature Communications reference paper and was presented at four scientific meetings, including ASHG 2025 in Boston.
Read the paperLong-Read Sequencing Pipeline
CompletedHelped develop the bioinformatics pipeline for a $15.2M long-read sequencing project — benchmarking and integrating tools spanning repeat-expansion detection, variant calling, and haplotype phasing. The pipeline supports the Neuro-Genomics Initiative (NRGI) cohort focused on neurological disorders.
About the NRGI projectTeaching
Teaching Assistant · Université de Montréal · Jan 2025 – Apr 2026
Led practical sessions across three undergraduate and graduate bioinformatics courses, introducing students to computational biology through hands-on work.
Courses: Biochemical Origin of Life, Nucleic Acids and Genetics 1, Bioinformatics for Biochemists / Applied Bioinformatics
- ▸Programming foundations: Linux/Unix, Python, R
- ▸Biological databases and sequence analysis: NCBI, BLAST, EMBOSS, UniProt
- ▸Genome editing tools: CHOPCHOP, CRISPR-Cas9 design
- ▸NGS & RNA-seq analysis: FASTQ QC, alignment, variant detection
- ▸Computational structural biology with AlphaFold and PyMOL
Publications
A multi-ancestry genetic reference for the Quebec populationMcClelland P., Femerling G., Laflamme R., et al.
Nature Communications · 2026 · DOI: 10.1038/s41467-026-68820-7
Genetic prevalence of repeat expansion and other rare neurological disorders in the Quebec population
In preparation · First author
Poster Presentations
A. De Mori (presenting author) et al. · Tétreault Lab, CRCHUM
Estimating the prevalence of SPG7 using genomics data from the CARTaGENE Biobank
American Society of Human Genetics (ASHG) Annual Meeting · Boston · Oct 2025
A genomics-based approach to estimating SPG7 prevalence in the Québec population
66th Québec Clinical Research Club (CRCQ) Annual Meeting · Québec City · Oct 2025
Estimating the prevalence of Spastic Paraplegia type 7 in Québec
CERMO-FC Annual Symposium (Fondation Courtois) · Montréal · Nov 2024
Identifying pathogenic variants of SPG7 using genomics data from the CARTaGENE Biobank
25th CRCHUM Student, Postdoctoral & Resident Convention · Montréal · Oct 2024
Awards & Scholarships
Early Thesis Deposit Scholarship
Université de Montréal · 2026
Graduate Scholarship (M.Sc.)
CERMO-FC · 2025
Graduate Excellence Scholarship – Bioinformatics (M.Sc.)
Université de Montréal · 2024
Perseverance Scholarship
Université de Montréal · 2024
Excellence Scholarship
Université de Montréal · 2023
Perseverance Scholarship
Université de Montréal · 2023
Volunteering & Outreach
Health Innovation Forum 2026
Université de Montréal – Faculty of Medicine
Translated sequencing concepts and their role in genetic disease diagnosis for a general-public audience of all ages.
Science and Technology Career Fair
Sainte-Anne College
Represented the bioinformatics graduate program, sharing academic and research experience to inspire prospective students.
Open House
Université de Montréal
Promoted the bioinformatics undergraduate and graduate programs to prospective students.
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