We are a research team based at CHU Sainte-Justine, dedicated to decoding the complex links between genetics, brain development, and clinical symptoms.
Jacquemont Lab Git
The Jacquemont Lab Git repository serves as a collaborative space for sharing code, analytical pipelines, and supplementary materials for publications.
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Repositories
Showing 10 of 15 repositories
- gVCF2CNV Public
Nextflow pipeline for deriving LRR and BAF signals from WGS gVCF files for scalable CNV detection.
- MCNV2-Mendelian-CNV-Validation Public
A lightweight Mendelian precision toolkit for validation of CNV detection pipelines in family-based cohort
- FunBurd Public
- Plink2SampleMetadata Public
A pipeline that converts PLINK files into per‑sample metadata tables (TSV) including family IDs, parental IDs, sex, ancestry PCs, and call rate.
- ShortVariants-Annotation Public
Optimized workflow for short variants (SNVs and Indels) annotation in large cohorts.
- CNV_cognitive_ability Public
Repository containing all script files used in Huguet et al, 2024, Cell Genomics. https://doi.org/10.1016/j.xgen.2024.100721
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