Alexandre Bureau

This study evaluates Shapeit2 duoHMM's reliability and accuracy in inferring recombination events on whole genome sequence data compared to SNP arrays.

The paper shows that CTCF loss in mouse heart cells reorganizes enhancer activity-by-contact scores, reduces CRH numbers, increases CRH size, and increases CRH crossing TAD boundaries.

The paper identifies rare pathogenic variants with higher carrier rates in the Beauce region of Quebec due to a regional founder effect, highlighting the need for fine-scale population structure studies.

RetroFun-RVS is a family-based rare-variant analysis method that integrates functional annotations to improve power and interpretability in complex disease studies.

This paper develops methods to prioritize rare variants in family-based sequencing studies with disease subtypes by comparing global and local approaches for variant prioritization.

The paper introduces cis-regulatory hubs (CRHs) as a 3D model of gene regulation in neurons, showing their enrichment in schizophrenia-associated genes, SNPs, and heritability.

This paper extends the Rare Variant Sharing method to handle partial variant sharing in multiplex pedigrees, showing improved power over existing methods in simulations and real data.