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收藏GNNenrich: a novel method for pathway enrichment analysis based on graph neural networkGNNenrich:一种基于图神经网络通路富集分析的新方法
Mziou-Sallami, Mallek; Roger, Pierrick; Gloaguen, Arnaud; Dandine-Roulland, Claire; Ngaho, Thierry Jiogho; Brohard, Solene; Muret, Kevin; Sandron, Florian; Bonnet, Eric; Deleuze, Jean-Francois; Le Floch, Edith; Meyer, Vincent
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收藏Human genetic structure in Northwest France provides new insights into West European historical demography法国西北部的人类遗传结构为西欧历史人口统计学提供了新的见解
Alves, Isabel; Giemza, Joanna; Blum, Michael G. B.; Bernhardsson, Carolina; Chatel, Stephanie; Karakachoff, Matilde; Saint Pierre, Aude; Herzig, Anthony F.; Olaso, Robert; Monteil, Martial; Gallien, Veronique; Cabot, Elodie; Svensson, Emma; Bacq, Delphine; Baron, Estelle; Berthelier, Charlotte; Besse, Celine; Blanche, Helene; Bocher, Ozvan; Boland, Anne; Bonnaud, Stephanie; Charpentier, Eric; Dandine-Roulland, Claire; Ferec, Claude; Fruchet, Christine; Lecointe, Simon; Le Floch, Edith; Ludwig, Thomas E.; Marenne, Gaelle; Meyer, Vincent; Quellery, Elisabeth; Racimo, Fernando; Rouault, Karen; Sandron, Florian; Schott, Jean-Jacques; Velo-Suarez, Lourdes; Violleau, Jade; Willerslev, Eske; Coativy, Yves; Jezequel, Mael; Le Bris, Daniel; Nicolas, Clement; Pailler, Yvan; Goldberg, Marcel; Zins, Marie; Le Marec, Herve; Jakobsson, Mattias; Darlu, Pierre; Genin, Emmanuelle; Deleuze, Jean-Francois; Redon, Richard; Dina, Christian
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收藏Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
Andre, Mathilde; Brucato, Nicolas; Hudjasov, Georgi; Pankratov, Vasili; Yermakovich, Danat; Montinaro, Francesco; Kreevan, Rita; Kariwiga, Jason; Muke, John; Boland, Anne; Deleuze, Jean-Francois; Meyer, Vincent; Evans, Nicholas; Cox, Murray P.; Leavesley, Matthew; Dannemann, Michael; Org, Tonis; Metspalu, Mait; Mondal, Mayukh; Ricaut, Francois-Xavier
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收藏Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Riquin, Kevin; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Colin, Estelle; Bonneau, Dominique; Pasquier, Laurent; Odent, Sylvie; Le Guillou Horn, Xavier Maximin; Le Guyader, Gwenael; Toutain, Annick; Meyer, Vincent; Deleuze, Jean-Francois; Pichon, Olivier; Doco-Fenzy, Martine; Bezieau, Stephane; Cogne, Benjamin
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收藏High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Lecoquierre, Francois; Quenez, Olivier; Fourneaux, Steeve; Coutant, Sophie; Vezain, Myriam; Rolain, Marion; Drouot, Nathalie; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-Francois; Dabbagh, Dana; Gilles, Isabelle; Gayet, Claire; Saugier-Veber, Pascale; Goldenberg, Alice; Guerrot, Anne-Marie; Nicolas, Gael
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收藏Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Mangiante, Lise; Alcala, Nicolas; Sexton-Oates, Alexandra; Di Genova, Alex; Gonzalez-Perez, Abel; Khandekar, Azhar; Bergstrom, Erik N.; Kim, Jaehee; Liu, Xiran; Blazquez-Encinas, Ricardo; Giacobi, Colin; Le Stang, Nolwenn; Boyault, Sandrine; Cuenin, Cyrille; Tabone-Eglinger, Severine; Damiola, Francesca; Voegele, Catherine; Ardin, Maude; Michallet, Marie-Cecile; Soudade, Lorraine; Delhomme, Tiffany M.; Poret, Arnaud; Brevet, Marie; Copin, Marie-Christine; Giusiano-Courcambeck, Sophie; Damotte, Diane; Girard, Cecile; Hofman, Veronique; Hofman, Paul; Mouroux, Jerome; Cohen, Charlotte; Lacomme, Stephanie; Mazieres, Julien; de Montpreville, Vincent Thomas; Perrin, Corinne; Planchard, Gaetane; Rousseau, Nathalie; Rouquette, Isabelle; Sagan, Christine; Scherpereel, Arnaud; Thivolet, Francoise; Vignaud, Jean-Michel; Jean, Didier; Ilg, Anabelle Gilg Soit; Olaso, Robert; Meyer, Vincent; Boland-Auge, Anne; Deleuze, Jean-Francois; Altmuller, Janine; Nuernberg, Peter; Ibanez-Costa, Alejandro; Castano, Justo P.; Lantuejoul, Sylvie; Ghantous, Akram; Maussion, Charles; Courtiol, Pierre; Hernandez-Vargas, Hector; Caux, Christophe; Girard, Nicolas; Lopez-Bigas, Nuria; Alexandrov, Ludmil B.; Galateau-Salle, Francoise; Foll, Matthieu; Fernandez-Cuesta, Lynnette
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收藏The FastCarb project: Taking advantage of the accelerated carbonation of recycled concrete aggregates
Torrenti, Jean Michel; Amiri, Ouali; Barnes-Davin, Laury; Bougrain, Frederic; Braymand, Sandrine; Cazacliu, Bogdan; Colin, Johan; Cudeville, Amaury; Dangla, Patrick; Djerbi, Assia; Doutreleau, Mathilde; Feraille, Adelaide; Gueguen, Marielle; Guillot, Xavier; Hou, Yunlu; Izoret, Laurent; Jacob, Yvan-Pierre; Jeong, Jena; Hoong, Jean David Lau Hiu; Mahieux, Pierre-Yves; Mai-Nhu, Jonathan; Martinez, Heriberto; Meyer, Vincent; Morin, Vincent; Pernin, Thomas; Potier, Jean-Marc; Poulizac, Laurent; Rougeau, Patrick; Saade, Myriam; Schmitt, Lucie; Sedran, Thierry; Sereng, Marie; Soive, Anthony; Dos Reys, Glaydson Symoes; Turcry, Philippe
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收藏A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples
Gerber, Zuzana; Daviaud, Christian; Delafoy, Damien; Sandron, Florian; Alidjinou, Enagnon Kazali; Mercier, Jonathan; Gerber, Sylvain; Meyer, Vincent; Boland, Anne; Bocket, Laurence; Olaso, Robert; Deleuze, Jean-Francois
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收藏Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
Gabriel, Aurelie A. G.; Atkins, Joshua R.; Penha, Ricardo C. C.; Smith-Byrne, Karl; Gaborieau, Valerie; Voegele, Catherine; Abedi-Ardekani, Behnoush; Milojevic, Maja; Olaso, Robert; Meyer, Vincent; Boland, Anne; Deleuze, Jean Francois; Zaridze, David; Mukeriya, Anush; Swiatkowska, Beata; Janout, Vladimir; Schejbalova, Miriam; Mates, Dana; Stojsic, Jelena; Ognjanovic, Miodrag; Witte, John S.; Rashkin, Sara R.; Kachuri, Linda; Hung, Rayjean J.; Kar, Siddhartha; Brennan, Paul; Sertier, Anne-Sophie; Ferrari, Anthony; Viari, Alain; Johansson, Mattias; Amos, Christopher, I; Foll, Matthieu; McKay, James D.
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收藏Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul
Brucato, Nicolas; Andre, Mathilde; Tsang, Roxanne; Saag, Lauri; Kariwiga, Jason; Sesuki, Kylie; Beni, Teppsy; Pomat, William; Muke, John; Meyer, Vincent; Boland, Anne; Deleuze, Jean-Francois; Sudoyo, Herawati; Mondal, Mayukh; Pagani, Luca; Romero, Irene Gallego; Metspalu, Mait; Cox, Murray P.; Leavesley, Matthew; Ricaut, Francois-Xavier
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收藏The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Gargaun, Elena; Falcone, Sestina; Sole, Guilhem; Durigneux, Julien; Urtizberea, Andoni; Cuisset, Jean Marie; Benkhelifa-Ziyyat, Sofia; Julien, Laura; Boland, Anne; Sandron, Florian; Meyer, Vincent; Deleuze, Jean Francois; Salgado, David; Desvignes, Jean-Pierre; Beroud, Christophe; Chessel, Anatole; Blesius, Alexia; Krahn, Martin; Levy, Nicolas; Leturcq, France; Pietri-Rouxel, France
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收藏Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan
Auzanneau, Celine; Bacq, Delphine; Bellera, Carine; Blons, Helene; Boland, Anne; Boucheix, Marlene; Bourdon, Aurelien; Chollet, Emmanuelle; Chomienne, Christine; Deleuze, Jean-Francois; Delmas, Christelle; Dinart, Derek; Esperou, Helene; Geillon, Flore; Geneste, Damien; Italiano, Antoine; Jean, Delphine; Khalifa, Emmanuel; Laizet, Yec'han; Laurent-Puig, Pierre; Lethimonnier, Franck; Levy-Marchal, Claire; Lucchesi, Carlo; Malle, Carine; Mancini, Pierre; Mathoulin-Pelissier, Simone; Meyer, Vincent; Marie-Ange, Palomares; Perkins, Geraldine; Sellan-Albert, Sabrina; Soubeyran, Isabelle; Wallet, Cedric
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收藏Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Florian, Rahel T.; Kraft, Florian; Leitao, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kuehnel, Theresa; Schroeder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; lamiral, AnaiDe; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-Francois; Delpu, Yannick; Avarello, Mario D. M.; Vijfhuizen, Lisanne S.; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S.; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; Berkovic, Samuel F.; Bisulli, Francesca; Brancati, Francesco; Canafoglia, Laura; Casari, Giorgio; Guerrini, Renzo; Ishiura, Hiroyuki; Licchetta, Laura; Mei, Davide; Pippucci, Tommaso; Sadleir, Lynette; Scheffer, Ingrid E.; Striano, Pasquale; Tinuper, Paolo; Tsuji, Shoji; Zara, Federico; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F.; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A.; Tijssen, Marina A. J.; van den Maagdenberg, Arn M. J. M.; Depienne, Christel
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收藏Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Lemattre, Camille; Imbert-Bouteille, Marion; Gatinois, Vincent; Benit, Paule; Sanchez, Elodie; Guignard, Thomas; Mau-Them, Frederic Tran; Haquet, Emmanuelle; Rivier, Francois; Carme, Emilie; Roubertie, Agathe; Boland, Anne; Lechner, Doris; Meyer, Vincent; Thevenon, Julien; Duffourd, Yannis; Riviere, Jean-Baptiste; Deleuze, Jean-Francois; Wells, Constance; Molinari, Florence; Rustin, Pierre; Blanchet, Patricia; Genevieve, David
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收藏Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders遗传性视网膜疾病中缺失的基因缺陷在哪里?内含子和同义变体至少与4% 种CACNA1F-mediated遗传性视网膜疾病有关
Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle
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收藏Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress
Bayard, Quentin; Meunier, Lea; Peneau, Camille; Renault, Victor; Shinde, Jayendra; Nault, Jean-Charles; Mami, Iadh; Couchy, Gabrielle; Amaddeo, Giuliana; Tubacher, Emmanuel; Bacq, Delphine; Meyer, Vincent; La Bella, Tiziana; Debaillon-Vesque, Audrey; Bioulac-Sage, Paulette; Seror, Olivier; Blanc, Jean-Frederic; Calderaro, Julien; Deleuze, Jean-Francois; Imbeaud, Sandrine; Zucman-Rossi, Jessica; Letouze, Eric
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