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Guillaume Paré
PHRI is uniquely advantaged by having the CRLB-GMEL support genetic and biomarker testing for our studies through the lab’s technology and expertise.
But the lab is much more than a state-of-the-art molecular testing facility expertly operated by technicians and data scientists.
The CRLB-GMEL also contains a cadre of researchers pushing the boundaries on how the field analyzes genes.
Captained by lab director, PHRI Senior Scientist Guillaume Paré, scientists at the CRLB-GMEL are innovating processes and tools that increase the efficiency of vital processes such as whole genome sequencing.
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Michael Chong
“A key part of the lab’s mission focuses on method innovation,” says Michael Chong, Assistant Director, CRLB-GMEL, a bioinformatician at the lab for years before his recent move to a more senior role.
Some of the CRLB-GMEL’s recent successes in method innovation:
- Building a tool called “AutoMitoC” – a robust pipeline for scientists to derive mitochondrial DNA copy number (mtDNA-CN) from genotyping arrays that works across ancestries, enabling researchers all over the world to quantify mtDNA-CN (eLife, Jan. 2022, first author: Michael Chong).
- Developing the new method, “RV-EXCALIBER” (Rare Variant – EXome CALIBration using External Repositories), to aggregate and robustly calibrate the effect of rare variant burden across many risk genes. (Nature Communications, Oct. 2021, first author: PhD student Ricky Lali).
Gui Paré and his trainees have a history of innovating lab methods:
- Former PhD student, Jennifer Sjaarda, developed a framework to quantify the extent to which genetic ancestry influences levels of blood biomarkers (American Journal of Human Genetics, 2020).
- PhD candidate Pedrum Mohammadi-Shemirani developed a novel technique that combines genetics and proteomics data to identify diagnostic disease biomarkers (Clinical Chemistry, 2019).
- Gui Paré pioneered a machine-learning based framework to optimize predictiveness of genetic risk scores – work which led to a patent (Nature: Scientific Reports, 2017).
Stay tuned for more exciting research coming out of the CRLB-GMEL lab!