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Nicolas Duforet-Frebourg
Nicolas Duforet-Frebourg
Data Scientist, SeqOne
Verified email at seqone.com
Title
Cited by
Cited by
Year
Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineage
M Merker, C Blin, S Mona, N Duforet-Frebourg, S Lecher, E Willery, ...
Nature genetics 47 (3), 242-249, 2015
5762015
Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 genomes data
N Duforet-Frebourg, K Luu, G Laval, E Bazin, MGB Blum
Molecular biology and evolution 33 (4), 1082-1093, 2016
1562016
Genome scans for detecting footprints of local adaptation using a Bayesian factor model
N Duforet-Frebourg, E Bazin, MGB Blum
Molecular biology and evolution 31 (9), 2483-2495, 2014
1242014
Fine-scale human genetic structure in Western France
M Karakachoff, N Duforet-Frebourg, F Simonet, S Le Scouarnec, N Pellen, ...
European Journal of Human Genetics 23 (6), 831-836, 2015
472015
Nonstationary patterns of isolation-by-distance: inferring measures of local genetic differentiation with Bayesian kriging
N Duforet-Frebourg, MGB Blum
Evolution 68 (4), 1110-1123, 2014
452014
Isolation-by-distance-and-time in a stepping-stone model
N Duforet-Frebourg, M Slatkin
Theoretical population biology 108, 24-35, 2016
242016
HaploPOP: a software that improves population assignment by combining markers into haplotypes
N Duforet-Frebourg, LM Gattepaille, MGB Blum, M Jakobsson
BMC bioinformatics 16, 1-8, 2015
112015
Genome alert!: a standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine
K Yauy, F Lecoquierre, S Baert-Desurmont, D Trost, A Boughalem, ...
Genetics in Medicine 24 (6), 1316-1327, 2022
72022
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation
P Pujol, K Yauy, A Coffy, N Duforet-Frebourg, S Gabteni, JP Daurès, ...
Cancers 14 (13), 3266, 2022
62022
39MO Clinical evaluation of a low-coverage whole-genome test for homologous recombination deficiency detection in ovarian cancer
R Boidot, MGB Blum, MP Wissler, C Gottin, J Ruzicka, N Duforet-Frebourg, ...
ESMO Open 8 (1), 2023
42023
Bayesian matrix factorization for outlier detection: an application in population genetics
N Duforet-Frebourg, MGB Blum
The Contribution of Young Researchers to Bayesian Statistics: Proceedings of …, 2013
42013
Learning phenotypic patterns in genetic diseases by symptom interaction modeling
K Yauy, N Duforet-Frebourg, Q Testard, S Beaumeunier, J Audoux, ...
medRxiv, 2022.07. 29.22278181, 2022
12022
Predominance of BRCA2 mutation and estrogen receptor-positive breast cancer among BRCA1/2 mutation carriers.
P Pujol, K Yauy, A Coffy, N Duforet-Frebourg, S Gabteni, JP Daurès, ...
12022
Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine
K Yauy, F Lecoquierre, S Baert-Desurmont, D Trost, A Boughalem, ...
medRxiv, 2021.07. 13.21260422, 2021
12021
Statistiques bayésiennes en génétique des populations: modèle à facteurs et processus gaussiens pour étudier la variation génétique neutre et adaptative
N Duforet-Frebourg
Université de Grenoble, 2014
12014
Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer
R Boidot, MGB Blum, MP Wissler, C Gottin, J Ruzicka, S Chevrier, ...
European Journal of Cancer, 113978, 2024
2024
Clinical evaluation of a low-coverage wholegenome sequencing test for homologous recombination deficiency detection in ovarian cancer
C Gottin, J Ruzicka, N Duforet-Frebourg, D Bertrand, R Boidot, MP Wissler, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 570-570, 2024
2024
SeqOneRank plus: a machine learning model to rank genetic variants based on phenotypes and ACMG criteria
J Ruzicka, N Duforet-Frebourg, J Audoux, S Beaumeunier, D Bertrand, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 667-667, 2024
2024
Learning phenotypic patterns in genetic diseases by symptom interaction modeling
J Thevenon, K Yauy, N Duforet-Frebourg, Q Testard, S Beaumeunier, ...
2022
User Manual of PCAdapt Version 1.6
N Duforet-Frebourg, M Blum
2014
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