Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nicolas Duforet-Frebourg"'
Autor:
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, Detlef Trost, Aicha Boughalem, Armelle Luscan, Jean-Marc Costa, Vanna Geromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphael Lanos, Quentin Fort, Stenzel Cackowski, Quentin Testard, Abdoulaye Diallo, Nicolas Soirat, Jean-Marc Holder, Nicolas Duforet-Frebourg, Anne-Laure Bouge, Sacha Beaumeunier, Denis Bertrand, Jerome Audoux, David Genevieve, Laurent Mesnard, Gael Nicolas, Julien Thevenon, Nicolas Philippe
Publikováno v:
Genetics in Medicine. 24:1316-1327
Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such reinterpretation is manual and both human resources and variable operating procedures are the main bottlenecks.Genome Alert! metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75e49ffcf32629d36974d0136e6d597
https://doi.org/10.1016/j.gim.2022.02.008
https://doi.org/10.1016/j.gim.2022.02.008
Autor:
Julien Thevenon, Kevin Yauy, Nicolas Duforet-Frebourg, Quentin Testard, Sacha Beaumeunier, Jerome Audoux, Benoit Simard, DImitri Larue, Michael Blum, VIrginie Bernard, David Geneviève, Denis Bertrand, Nicolas Philippe
Observing phenotyping practices from an international cohort of 1,686 cases revealed heterogeneity of phenotype reporting among clinicians. Heterogeneity limited their exploitation for diagnosis as only 43% of symptom-gene associations in the cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a22ed594c89e1a46ac9e01dfc7b612d7
https://doi.org/10.21203/rs.3.rs-2152267/v1
https://doi.org/10.21203/rs.3.rs-2152267/v1
Autor:
Pascal, Pujol, Kevin, Yauy, Amandine, Coffy, Nicolas, Duforet-Frebourg, Sana, Gabteni, Jean-Pierre, Daurès, Frédérique, Penault Llorca, Frédéric, Thomas, Kevin, Hughes, Clare, Turnbull, Virginie, Galibert, Chloé, Rideau, Carole, Corsini, Laetitia, Collet, Benoit, You, David, Geneviève, Nicolas, Philippe
Publikováno v:
Cancers. 14(13)
Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA) in both the metastatic and adjuvant settin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::927af34228552b4a6a30f7ac3f831afe
https://pubmed.ncbi.nlm.nih.gov/35805038
https://pubmed.ncbi.nlm.nih.gov/35805038
Autor:
Sophie Coutant, Armelle Luscan, Quentin Fort, Nicolas Soirat, Abdoulaye Hama Diallo, Mélanie Broutin, Julien Thevenon, Nicolas Philippe, Stéphanie Baert-Desurmont, David Geneviève, Raphaël Lanos, Sacha Beaumeunier, Laurent Mesnard, Jean-Marc Costa, Jérôme Audoux, Kevin Yauy, Laure Raymond, Vanna Geromel, Denis Bertrand, Jean-Marc Holder, Stenzel Cackowski, Aïcha Boughalem, Detlef Trost, Anne-Laure Bougé, Gaël Nicolas, Pascale Richard, Nicolas Duforet-Frebourg, François Lecoquierre, Quentin Testard
Numerous countries have set up population genomics plans, allowing an unprecedented growth in the ability of interpreting variants in human diseases. Retrospective interpretation of sequenced data in the light of the current literature is a major con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d1d21fbb3052a335d996f21f92bb22a
https://doi.org/10.1101/2021.07.13.21260422
https://doi.org/10.1101/2021.07.13.21260422
Autor:
Pascal Pujol, Kévin Yauy, Amandine Coffy, Nicolas Duforet-Frebourg, Sana Gabteni, Jean-Pierre Daurès, Frédérique Penault-Llorca, Frédéric Thomas, Kevin Hughes, Clare Turnbull, Virginie Galibert, Chloé Rideau, Laetitia Collet, Benoit You, David Geneviève, Nicolas Philippe
Publikováno v:
Journal of Clinical Oncology. 40:551-551
Background: PARP inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer (BC) who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA1/2) in both the metastatic and adjuvant setting. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717527490d66e879bf61ee820bb837bd
https://doi.org/10.1200/jco.2022.40.16_suppl.551
https://doi.org/10.1200/jco.2022.40.16_suppl.551
Autor:
Sabine Rüsch-Gerdes, Hans P eter Beck, Vladyslav Nikolayevskyy, Irina Kontsevaya, Petras Stakenas, Kadri Toit, Shinji Maeda, Eman Aleksic, Marie Ballif, Stefano Mona, Troels Lillebaek, Maryline Bonnet, Caroline Allix-Béguec, Sophie Lecher, Robin M. Warren, Isdore Chola Shamputa, Francesca Barletta, Isolina Campos-Herrero, Wei wei Jiao, Thomas Kohl, Suzanne M. Crowe, Ewa Augustynowicz-Kopeć, Solomon Ghebremichael, Branislava Savic, Francis Varaine, Dragana Vuković, Camille Blin, Annick Antierens, Li Hwei Sng, Maryse Fauville-Dufaux, Céline Wahl, Thierry Wirth, Stefan Niemann, Eve Willery, Helen Cox, Valeriu Crudu, Emanuele Borroni, Sebastien Gagneux, Philip Supply, Sven Hoffner, Adong Shen, Stobdan Kalon, Michael Rasmussen, Francis Drobniewski, Igor Mokrousov, Michael G. B. Blum, Madeleine Hanekom, Sofía Samper, Matthias Merker, Clifton E. Barry, Nicolas Duforet-Frebourg, Roland Diel, Nalin Rastogi, Daniela Maria Cirillo, Elisabeth Sanchez-Padilla
Publikováno v:
Nature genetics
Nature Genetics
Nature Genetics, 2015, 47 (3), pp.242-249. ⟨10.1038/ng.3195⟩
ResearcherID
Nature Genetics, Nature Publishing Group, 2015, 47 (3), pp.242-249. ⟨10.1038/ng.3195⟩
Nature Genetics
Nature Genetics, 2015, 47 (3), pp.242-249. ⟨10.1038/ng.3195⟩
ResearcherID
Nature Genetics, Nature Publishing Group, 2015, 47 (3), pp.242-249. ⟨10.1038/ng.3195⟩
International audience; Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical stru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5de7ac30b5ad7501c06b247c751b6b5
Publikováno v:
Evolution; International Journal of Organic Evolution
Evolution-International Journal of Organic Evolution
Evolution-International Journal of Organic Evolution, Wiley, 2014, 68, pp.1110-1123. ⟨10.1111/evo.12342⟩
Evolution-International Journal of Organic Evolution
Evolution-International Journal of Organic Evolution, Wiley, 2014, 68, pp.1110-1123. ⟨10.1111/evo.12342⟩
Patterns of isolation-by-distance arise when population differentiation increases with increasing geographic distances. Patterns of isolation-by-distance are usually caused by local spatial dispersal, which explains why differences of allele frequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d7f333edee78d6c270f342cf0ca1b6
https://doi.org/10.1111/evo.12342
https://doi.org/10.1111/evo.12342
Publikováno v:
Molecular Biology and Evolution
Molecular Biology and Evolution, Oxford University Press (OUP), 2015, ⟨10.1093/molbev/msv334⟩
Molecular Biology and Evolution, 2015, ⟨10.1093/molbev/msv334⟩
Molecular Biology and Evolution, Oxford University Press (OUP), 2015, ⟨10.1093/molbev/msv334⟩
Molecular Biology and Evolution, 2015, ⟨10.1093/molbev/msv334⟩
To characterize natural selection, various analytical methods for detecting candidate genomic regions have been developed. We propose to perform genome-wide scans of natural selection using principal component analysis. We show that the common Fst in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11214322467a51e0f4c7d43d4c34279e
https://hal.archives-ouvertes.fr/hal-01280469/document
https://hal.archives-ouvertes.fr/hal-01280469/document
With the great advances in ancient DNA extraction, population genetics data are now made of geographically separated individuals from both present and ancient times. However, population genetics theory about the joint effect of space and time has not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afaf9db2bed9bbe017eda86404790a9
https://doi.org/10.1101/024133
https://doi.org/10.1101/024133
Publikováno v:
BMC Bioinformatics
BMC Bioinformatics, BioMed Central, 2015, 16 (1), ⟨10.1186/s12859-015-0661-6⟩
BMC Bioinformatics, BioMed Central, 2015, 16 (1), ⟨10.1186/s12859-015-0661-6⟩
In ecology and forensics, some population assignment techniques use molecular markers to assign individuals to known groups. However, assigning individuals to known populations can be difficult if the level of genetic differentiation among population
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502e795a84852d54747af78df24f2077
http://europepmc.org/articles/PMC4521458
http://europepmc.org/articles/PMC4521458