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


Allele-specific expression reveals interactions between genetic variation and environment

Authors: David Knowles, Joe Davis, Hilary Edgington, Anil Raj, Marie-Julie Fave, Xiaowei Zhu, James Potash, Myrna Weissman, Jianxin Shin, Douglas Levinson, Philip Awadalla, Sara Mostafavi, Stephen Montgomery, Alexis Battle

Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.

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Impact of the X Chromosome and sex on regulatory variation

Authors: Kimberly Kukurba, Princy Parsana, Brunilda Balliu, Kevin Smith, Zachary Zappala, David Knowles, Marie-Julie Fave, Joe Davis, Xin Li, Xiaowei Zhu, James Potash, Myrna Weissman, Jianxin Shi, Anshul Kundaje, Douglas Levinson, Philip Awadalla, Sara Mostafavi, Alexis Battle, and Stephen Montgomery

The research team analyzed blood transcriptomes of 922 individuals and they were able to conduct the first large-scale genome wide analysis of sex/genetic variation patterns. They generated chromatin and were able to develop genome-wide insight into how genetic variation shape human gene regulation and disease.

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