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@JacquemontLab

Jacquemont Lab Git

The Jacquemont Lab Git repository serves as a collaborative space for sharing code, analytical pipelines, and supplementary materials for publications.

👋 Welcome to the Jacquemont Lab Git repository

We are a research team based at CHU Sainte-Justine, dedicated to decoding the complex links between genetics, brain development, and clinical symptoms.

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  1. CNV-Caller CNV-Caller Public

    A pipeline for calling CNVs by cohort using BAF LRR.

    Shell 1

Repositories

Showing 10 of 16 repositories
  • bioutils Public

    This repository is dedicated to commonly used bioinformatics scripts in the lab.

    JacquemontLab/bioutils's past year of commit activity
    Shell 0 0 0 0 Updated Oct 8, 2026
  • MCNV2-Mendelian-CNV-Validation Public

    A lightweight Mendelian precision toolkit for validation of CNV detection pipelines in family-based cohort

    JacquemontLab/MCNV2-Mendelian-CNV-Validation's past year of commit activity
    R 1 1 0 0 Updated Oct 2, 2026
  • MosaicCNV-Caller Public

    A mosaic CNV detection pipeline for WGS data using MoChA

    JacquemontLab/MosaicCNV-Caller's past year of commit activity
    Nextflow 1 0 0 0 Updated Sep 7, 2026
  • gVCF2CNV Public

    Nextflow pipeline for deriving LRR and BAF signals from WGS gVCF files for scalable CNV detection.

    JacquemontLab/gVCF2CNV's past year of commit activity
    Shell 0 Apache-2.0 0 0 0 Updated Sep 1, 2026
  • CNV-Annotation Public

    A nextflow pipeline for annotating CNVs from a single TSV file.

    JacquemontLab/CNV-Annotation's past year of commit activity
    Python 1 0 0 0 Updated Sep 1, 2026
  • FunBurd Public
    JacquemontLab/FunBurd's past year of commit activity
    R 1 MIT 0 0 0 Updated Aug 19, 2026
  • SAREK-CNV-ShortVariants Public

    A bash script on how to use sarek for calling CNV and Short Variants

    JacquemontLab/SAREK-CNV-ShortVariants's past year of commit activity
    Shell 0 0 0 0 Updated Aug 17, 2026
  • CNV-Caller Public

    A pipeline for calling CNVs by cohort using BAF LRR.

    JacquemontLab/CNV-Caller's past year of commit activity
    Shell 1 0 1 0 Updated Jul 28, 2026
  • 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.

    JacquemontLab/Plink2SampleMetadata's past year of commit activity
    Shell 0 0 0 1 Updated Jul 8, 2026
  • ShortVariants-Annotation Public

    Optimized workflow for short variants (SNVs and Indels) annotation in large cohorts.

    JacquemontLab/ShortVariants-Annotation's past year of commit activity
    Python 1 Apache-2.0 0 0 0 Updated Jun 29, 2026

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