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. I analyze whole-genome sequencing cohorts to find repeat expansions and estimate how common rare neurological disorders are in the Quebec population. I’ve also been a teaching assistant for 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 CARTaGENE whole-genome samples for short tandem repeat expansions across 32 neurogenetic loci, estimating carrier frequencies and disease prevalence for disorders like DM1, Friedreich ataxia, and SCA27B. Basis for a first-author manuscript in preparation.
Estimating SPG7 Prevalence in Quebec
PublishedCombined whole-genome, whole-exome, and RNA sequencing to estimate the prevalence of hereditary spastic paraplegia type 7 (SPG7) in Quebec. Part of the published Nature Communications reference paper, and presented at four meetings including ASHG 2025 in Boston.
Read the paperLong-Read Sequencing Pipeline
CompletedHelped build the bioinformatics pipeline for a $15.2M long-read sequencing project, benchmarking and integrating tools for repeat-expansion detection, variant calling, and haplotype phasing. It supports the Neuro-Genomics Initiative (NRGI) cohort focused on neurological disorders.
About the NRGI projectTeaching
Teaching Assistant - Université de Montréal - Jan 2025 - Apr 2026
Ran the practical sessions for three undergraduate and graduate bioinformatics courses, teaching students computational biology hands-on.
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 Quebec population
66th Quebec Clinical Research Club (CRCQ) Annual Meeting - Quebec City - Oct 2025
Estimating the prevalence of Spastic Paraplegia type 7 in Quebec
CERMO-FC Annual Symposium (Fondation Courtois) - Montreal - Nov 2024
Identifying pathogenic variants of SPG7 using genomics data from the CARTaGENE Biobank
25th CRCHUM Student, Postdoctoral & Resident Convention - Montreal - 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
Explained sequencing and its role in diagnosing genetic disease to a general-public audience of all ages.
Science and Technology Career Fair
Sainte-Anne College
Represented the bioinformatics graduate program and shared my experience with prospective students.
Open House
Université de Montréal
Introduced prospective students to the bioinformatics undergraduate and graduate programs.
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