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Ozvan Bocher
Ozvan Bocher
Bestätigte E-Mail-Adresse bei helmholtz-muenchen.de
Titel
Zitiert von
Zitiert von
Jahr
Rare variant association testing in the non-coding genome
O Bocher, E Génin
Human Genetics 139 (11), 1345-1362, 2020
302020
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
112023
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
102019
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
82024
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
82021
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
62022
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
62022
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
52021
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
42021
Unravelling the genetic architecture of human complex traits through whole genome sequencing
O Bocher, CJ Willer, E Zeggini
nature communications 14 (1), 3520, 2023
32023
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
32022
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
22020
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
12023
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
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