There is currently a widening gap between the tidal wave of gene discovery in neuropsychiatric conditions and our poor understanding of rare genomic variants' effects on cognitive, behavioral, and neuroimaging traits. Deleterious short variants (SNVs and Indels) and Copy Number Variants (CNVs) are identified in 5 to 40% of individuals with neuropsychiatric disorders. Still, little is known on how they confer risk to these conditions.
The lab is focussed on the growing need for large-scale, systematic, structured, and quantitative phenotypic and genomic research in rare genomic variants. We work with data collected by our group as well as collaborators, in individuals who carry specific high-risk factors for psychiatric conditions such as the 16p11.2, 1q21.1, 15q13.3. We also investigate genome-wide, the effects of rare recurrent and non-recurrent CNVs and short variants on cognition and brain architecture.
PROJECTS
TOOLS
MIND•CNV prediction tool
This tool was created to help clinicians estimate the potential impact of deletions in the genome (hg19 and hg38 genomic map) on cognition based on the results of Huguet et al. (JAMA psychiatry 2018).
Jacquemont Lab Pipelines
As part of our research projects, we develop bioinformatics pipelines for large-scale genomic analyses. These include research pipelines accompanying published studies, as well as high-throughput tools for the annotation and processing of SNVs, INDELs, and CNVs across cohorts of more than 500,000 individuals.
Feel free to contact us if you would like support using or deploying our pipelines.
MEDIA
JOIN OUR TEAM
We are currently recruiting!
Whether you are a post-doctoral researcher or a graduate student, we offer opportunities to be part of our research in genomics and bioinformatics.
If you are passionate about scientific discovery and eager to contribute to transformative research, we encourage you to contact us.
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Doctoral and Postdoctoral