Jacquemont Lab Git

A mosaic CNV detection pipeline for WGS data using MoChA

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

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

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

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

A pipeline for calling CNVs by cohort using BAF LRR.

A pipeline that converts PLINK files into per‑sample metadata tables (TSV) including family IDs, parental IDs, sex, ancestry PCs, and call rate.

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

Repository containing all script files used in Huguet et al, 2024, Cell Genomics. https://doi.org/10.1016/j.xgen.2024.100721