Postdoctoral Researcher - hEDS*Omics Study

About the role

The Canada Excellence Research Chair in Genomic Medicine at McGill University is hiring a Postdoctoral Researcher for the hEDS*Omics Study, a multi‑centre initiative aimed at improving detection of hypermobile Ehlers‑Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD). The researcher will develop AI‑driven pipelines that analyse clinical notes, ICD codes, HPO terms and omics data to uncover undiagnosed or misdiagnosed cases.

Key responsibilities

• Design, implement and evaluate AI‑based pipelines for case‑finding of hEDS/HSD using clinical text, structured phenotypes and omics resources.
• Extract and normalise clinical phenotypes from unstructured medical records across the hEDS*Omics Study and partner cohorts.
• Compare AI‑generated candidate cases with existing diagnoses, clinical criteria, chart reviews or expert assessments.
• Conduct validation studies to measure sensitivity, specificity, positive predictive value and clinical utility of the models.
• Document reproducible scripts, analyses, technical reports, figures, manuscripts and grant materials.
• Collaborate with clinicians, geneticists, data scientists, bioinformaticians and international consortium partners.

Required profile

• PhD in computational biology, bioinformatics, computer science, data science, machine learning or a related discipline.
• Strong experience with clinical, biomedical, genetic or electronic health record data.
• Proven ability to work in interdisciplinary research teams.

Required skills

• Python and/or R programming.
• Large language models and natural language processing for medical text mining.
• Experience with clinical AI, phenotype extraction and normalisation (e.g., HPO terms).