Code repository for the article:
"Rare variants and founder effect in an understudied Quebec population"
Mylène Gagnon, Claudia Moreau, Jasmin Ricard, Marie-Claude Boisvert, Alexandre Bureau, Michel Maziade, Simon L. Girard
https://doi.org/10.1038/s42003-025-08630-7
This repository contains the code and scripts used in the analyses for the above-mentioned article. The study aimed to characterise the genetics of Beauce’s population and to investigate how its structure can be explained by the demographic processes using deep genealogies.
This repository contains two branches :
- Genealogical_analyses contains the scripts and documentation related to the genealogical analyses performed
- Genetic_analyses contains the scripts and documentation related to the ancestry-based clustering of the genotyped data and the identification rare pathogenic variants with an elevated frequency in Beauce due to the regional founder effect.
Both branches also contain the aggregated data necessary to reproduce the main Figures
The genealogical data is publicly available upon request via an independent data access committee by BALSAC. The data from the Eastern Quebec schizophrenia and bipolar disorder kindred study is available upon request from MM. The data from the CARTaGENE cohort is publicly available via an independent data access committee by the CARTaGENE cohort.