Rare variant association testing in the non-coding genome O Bocher, E Génin Human Genetics 139 (11), 1345-1362, 2020 | 30 | 2020 |
Multi-ancestry genome-wide study in> 2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin, KM Lorenz, ... medRxiv, 2023 | 11 | 2023 |
Rare variant association testing for multicategory phenotype O Bocher, G Marenne, A Saint Pierre, TE Ludwig, S Guey, ... Genetic Epidemiology 43 (6), 646-656, 2019 | 10 | 2019 |
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin, KM Lorenz, ... Nature, 1-11, 2024 | 8 | 2024 |
CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells M Collobert, O Bocher, A Le Nabec, E Génin, C Férec, S Moisan International Journal of Molecular Sciences 22 (5), 2599, 2021 | 8 | 2021 |
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score O Bocher, TE Ludwig, MS Oglobinsky, G Marenne, JF Deleuze, ... PLoS Genetics 18 (9), e1009923, 2022 | 6 | 2022 |
Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe I Alves, J Giemza, M Blum, C Bernhardsson, S Chatel, M Karakachoff, ... bioRxiv, 2022.02. 03.478491, 2022 | 6 | 2022 |
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage L Gourhant, O Bocher, L De Saint Martin, TE Ludwig, A Boland, ... Reproductive BioMedicine Online 42 (4), 789-798, 2021 | 5 | 2021 |
Extension of SKAT to multi-category phenotypes through a geometrical interpretation O Bocher, G Marenne, E Tournier-Lasserve, FREX Consortium,, E Génin, ... European Journal of Human Genetics 29 (5), 736-744, 2021 | 4 | 2021 |
Unravelling the genetic architecture of human complex traits through whole genome sequencing O Bocher, CJ Willer, E Zeggini nature communications 14 (1), 3520, 2023 | 3 | 2023 |
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis G Marenne, TE Ludwig, O Bocher, AF Herzig, C Aloui, ... Genetic Epidemiology 46 (5-6), 256-265, 2022 | 3 | 2022 |
Principal component analysis, a useful tool to study cyclin-dependent kinase-inhibitor’s effect on cerebral ischaemia L Le Roy, A Amara, C Le Roux, O Bocher, A Létondor, N Benz, S Timsit Brain Communications 2 (2), fcaa136, 2020 | 2 | 2020 |
Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction O Bocher, A Gilly, YC Park, E Zeggini, AP Morris Human Genetics and Genomics Advances 4 (3), 2023 | 1 | 2023 |
Metabolic reprogramming induced by periodic dietary restriction of animal products has beneficial effects on human health K Rouskas, O Bocher, P Mantas, A Skoulakis, A Simistiras, C Emmanouil, ... medRxiv, 2024.04. 19.24306061, 2024 | | 2024 |
Leveraging healthy population data to assess the pathogenicity of rare variants in WGS using an extension of the PSAP method MS Ogloblinsky, O Bocher, C Aloui, AL Leutenegger, O Ozisik, A Baudot, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 650-650, 2024 | | 2024 |
PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis MS Ogloblinsky, O Bocher, C Aloui, AL Leutenegger, O Ozisik, A Baudot, ... bioRxiv, 2024.02. 13.580050, 2024 | | 2024 |
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes O Bocher, G Marenne, E Génin, H Perdry Genetic Epidemiology 47 (6), 450-460, 2023 | | 2023 |
Multi-ancestry genome-wide study in> 2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications AGDI Japan, K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin, ... | | 2023 |
How Should QC of Sequencing Data be Performed for Rare Variant Association Testing with External Controls? G Marenne, TE Ludwig, O Bocher, AF Herzig, C Aloui, ... GENETIC EPIDEMIOLOGY 46 (7), 514-515, 2022 | | 2022 |
Leveraging Healthy Population Data to Assess the Pathogenicity of Rare Variants in WGS: Extension of PSAP Method to the Non-coding Genome MSC Ogloblinsky, O Bocher, C Aloui, E Tournier-Lasserve, DF Conrad, ... GENETIC EPIDEMIOLOGY 46 (7), 521-521, 2022 | | 2022 |