Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2025

RetroFun-RVS: A retrospective family-based framework for rare variant analysis incorporating functional annotations

Authors: L. Mangnier, I. Ruczinski, J. Ricard, C. Moreau, S. Girard, M. Maziade, A. Bureau.

The researchers explored how rare genetic variations contribute to complex diseases, particularly those located in noncoding regions of the genome, which are difficult to interpret. They used data from the CARTaGENE cohort as controls along with other cohort data to develop and test a new method called RetroFun-RVS. This method helps identify disease-related rare genetic variants by analyzing how they are shared among family members with the same condition.

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2017

Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)

Authors: Marc Tremblay & Gabrielle Rouleau

The main objective of this study was to reconstruct, analyse, and compare ascending genologies of participants to CARTaGENE. They found 5110 genealogies were from four Quebec regions were constructed. They were able to find ancestry going back to the 17th century.

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