Publications

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

2024

Addressing dispersion in mis-measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data

Authors: K. Zhao, K. Oualkacha, Y. Zeng, C. Shen, K. Klein, et al.

The researchers investigated the association between DNA methylation and levels of anti-citrullinated protein antibodies (ACPA), a preclinical marker for rheumatoid arthritis (RA) risk, using asymptomatic samples from the CARTaGENE cohort. Through targeted custom capture sequencing of whole blood, their analysis identified 23 significant genes potentially contributing to ACPA-related differential methylation. These findings emphasize the roles of cell signaling and collagen metabolism in RA.

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2023

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene

Authors: Caitlin T Fierheller, Wejdan M Alenezi, Corinne Serruya, Timothée Revil, Setor Amuzu, Karine Bedard, Deepak N Subramanian, Eleanor Fewings, Jeffrey P Bruce, Stephenie Prokopec, Luigi Bouchard, Diane Provencher, William D Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Marc Tischkowitz, Ian G Campbell, Trevor J Pugh, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

Researchers investigated the genetic characteristics of the FANCI gene, which has been linked to an increased risk of ovarian cancer. Using data from 171 CARTaGENE participants and other sources, they confirmed that a specific FANCI variant is associated with ovarian cancer and discovered potential genetic links to other cancer types.

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