Publications

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

2013

Exploiting gene expression variation to capture gene-environment interactions for disease

Authors: Youseff Idaghdour, Philip Awadalla

The two researchers surveyed the current state of the concept of transcriptional gene-environment interactions and discuss its utility for mapping disease genotypes. The article noted human transcriptome is still fairly new in the literature and could have more information brought about it.

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2013

Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics

Authors: Philip Awadalla, Catherine Boileau, Yves Payette, Youssef Idaghdour, Jean-Philippe Goulet, Bartha Knoppers, Pavel Hamet, Claude Laberge

Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.

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2013

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Authors: Mark E Samuels , Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond,Bruno Maranda

Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.

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2011

Access Arrangements’ for Biobanks: A Fine Line between Facilitating and Hindering Collaboration

Authors: S. Fortini, S. Pathmasiri, R. Grintuch, M. Deschenes

This paper looked at how access arrangements identify key elements of these new regulatory instruments. It also looks at the different ways biobanks regulate access and surveys, it also outlines the challenges involved with creating access policy with CARTaGENE.

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2010

The Canadian Partnership for Tomorrow Project: building a pan-Canadian research platform for disease prevention

Authors: Marilyn J. Borugian, Paula Robson, Isabel Fortier, Louise Parker, John McLaughlin, Bartha Maria Knoppers, Karine Bédard, Richard P. Gallagher, Sandra Sinclair, Vincent Ferretti, Heather Whelan, David Hoskin and John D. Potter

This article outlines the challenges a pan-Canadian cohort to look at cancer and chronic disease. The hope of this cohort will be that it could be a major research platform for the study of disease causation nationally, and internationally. They outlined how they got their participants, which provinces are involved, and how this specific cohort is unique.

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2010

Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies

Authors: Isabel Fortier, Paul R Burton, Paula J Robson, Vincent Ferretti, Julian Little, Francois L’Heureux, Mylène Deschênes, Bartha M Knoppers, Dany Doiron, Joost C Keers, Pamela Linksted, Jennifer R Harris, Geneviève Lachance, Catherine Boileau, Nancy L Pedersen, Carol M Hamilton, Kristian Hveem, Marilyn J Borugian, Richard P Gallagher, John McLaughlin, Louise Parker, John D Potter, John Gallacher, Rudolf Kaaks, Bette Liu, Tim Sprosen, Anne Vilain, Susan A Atkinson, Andrea Rengifo, Robin Morton, Andres Metspalu, H Erich Wichmann, Mark Tremblay, Rex L Chisholm, Andrés Garcia-Montero, Hans Hillege, Jan-Eric Litton, Lyle J Palmer, Markus Perola, Bruce HR Wolffenbuttel, Leena Peltonen, Thomas J Hudson

The DataSHaPER is being used with CPTP to integrate their data in a way that it can easily be harmonized and pooled together.

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2006

Pharmacogenomic data sample collection and storage: ethical issues and policy approaches

Authors: Yann Joly, Bartha Knoppers

This journal highlighted that CARTaGENE’s data would become more important over time in pharmocogenomic research to find out the association between genetic variations and drug-related effects. The ability of database creators to meet ethical issues will determine how pharmocogenomics can be integrated into mainstream clinical practice.

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2004

Strategies for consulting with the community: The cases of four large-scale genetic databases

Authors: B. Godard, J. Marshall, C. Laberge, B.M. Knoppers

This journal outlined how CARTaGENE is taking a partnership approach so that they could get more participation in their studies and better develop their databases.

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