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


Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes

Authors: Aminah Tasnim Ali, Youssef Idaghdour, Alan Hodgkinson

The study identified links between mitochondrial RNA modification levels and genetic variants in the nuclear genome, including a missense mutation in LONP1, and found that genetic variants within MRPP3 and TRMT61B are associated with RNA modification levels across a large number of tissues.

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Nuclear genetic regulation of the human mitochondrial transcriptome

Authors: Aminah Ali, Lena Boehme, Guillermo Carbajosa, Vlad Seitan, Kerrin Small, Alan Hodgkinson

They analyzed more than 11000 RNA sequencing libraries across 36 tissue/cell types and they found considerable variation in mitochondrial gene expression along the transcriptome. This was also looked at tissues and inviduals and highlighted the importance of cell-type specific and post transcriptional processes in shaping mitochondrial-encoded RNA levels.

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A haplotype-based normalization technique for the analysis and detection of allele specific expression

Authors: Alan Hodgkinson, Jean-Christophe Grenier, Elias Gbeha, Philip Awadalla

The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.

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