Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity

Autor: Eric Pellegrino, Clara Camilla, Norman Abbou, Nathalie Beaufils, Christel Pissier, Jean Gabert, Isabelle Nanni-Metellus, L’Houcine Ouafik

Publikováno v: Bioengineering, Vol 10, Iss 7, p 753 (2023)

The advent of next-generation sequencing (NGS) technologies has revolutionized the field of bioinformatics and genomics, particularly in the area of onco-somatic genetics. NGS has provided a wealth of information about the genetic changes that underl

Externí odkaz: https://doaj.org/article/1a0d166be1784b5a9a0992983e8fc0db

Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm

Autor: Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L’houcine Ouafik, Pierre Morange, Régis Costello, Geoffroy Venton

Publikováno v: Cells, Vol 12, Iss 1, p 105 (2022)

BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic proliferation with an i

Externí odkaz: https://doaj.org/article/b7239ef8ab9b40f2bde93e624c1b2d29

Very short insertions in the FLT3 gene are of therapeutic significance in acute myeloid leukemia

Autor: Norman, Abbou, Sara, Addakiri, Louis, Adje Missa, Lucille, Altounian, Chloé, Arfeuille, Amélie, Bachelot, Fanny, Baran-Marszak, Kildie, Barrial, Anne, Barthel, Martine, Becker, Emmanuel, Beillard, Graziella, Bernier, Annaëlle, Beucher, Odile, Blanchet, Pauline, Blateau, Julliane, Bloch, Lara, Boucher, Marie-Laure, Boulland, Anne, Bouvier, Simon, Bouzy, Claire, Bracquemart, Clotilde, Bravetti, Chantal, Brouzes, Patricia, Brugel, Serge, Carillo, Bruno, Cassinat, Hélène, Cave, Aurélie, Caye-Eude, Jean-Michel, Cayuela, Carole, Charlot, Aurélie, Chauveau, Sara, Chikhi, Lionel, Chollet, Jean-Claude, Chomel, Emmanuelle, Clappier, Alexis, Claudel, Pascale, Cornillet Lefebvre, Laurane, Cottin, Marie-Magdelaine, Coude, Vincent, Cussac, Bérangère, Dadone-Montaudie, Frédéric, Davi, Véronique, De Mas, Agathe, Debliquis, Matthieu, Decamp, Sabine, Defasque, Michaël, Degaud, Marlene, Dejean, Eric, Delabesse, Hervé, Delacour, Marie-Hélène, Delfau-Larue, Anne, Desmares, Marion, Divoux, Natacha, Doumbadze, Julie, Dremaux, Bernard, Drenou, Stéphanie, Dulucq, Coraline, Dumont, Manon, Duprat, Valérie, Duranton-Tanneur, Marie-Hélène, Estienne, Pascaline, Etancelin, Lisa, Faucheux, Laurène, Fenwarth, Carole, Fleury, Elise, Fournier, Chloé, Friedrich, Xavier, Fund, Nathalie, Gachard, Jean-Baptiste, Gaillard, Coralie, Giot, Valérie, Goncalves, Nathalie, Grardel, Brigitte, Gubler, Yacine, Haddad, Mehdi, Hage Sleiman, Sandrine, Hayette, Claire, Hirschauer, Sarah, Huet, Carole, Humbert, Antoine, Ittel, Sophie, Kaltenbach, Sébastien, Lachot, Sophy, Laibe, Grégory, Lazarian, Valoris, Le Brun, Christelle, Le Sciellour, Benjamin, Lebecque, Isabelle, Lemaire, Melchior, Le Mene, Christine, Lespinasse, Ludovic, Lhermitte, Laurence, Lode, Damien, Luque Paz, Cyril, Maingourd, Elsa, Maitre, Mansier, Olivier, Alice, Marceau-Renaut, Angelique, Marcon, Mélanie, Martin-Gourier, Christophe, Marzac, Claire, Mauduit, Lucie, Maurice, Audrey, Menard, Jean-Philippe, Merlio, Yannick, Miguet Laurent, Djamia, Mokrane, Nathalie, Monhoven, Marie-Joelle, Mozziconacci, Marc, Muller, Anne, Murati-Zeller, Dina, Naguib, Rajiv, Narayanin, Olivier, Nibourel, Pauline, Noyel, Jennifer, Osman, Cédric, Pastoret, Agathe, Paubel, Anne, Perdrix, Benjamin, Podvin, Benoit, Quilichini, Anna, Raimbault, Thimali, Ranaweera Arachchige, Noémie, Ravalet, Julie, Renard, Aline, Renneville, Florian, Renosi, Bénédicte, Ribourtout, David, Rizzo, Camille, Rottier, Léa, Ryffel, Ivan, Sloma, Brigitte, Soubeyran, Nathalie, Sorel, Marc, Spentchian, Assia, Taleb, Thomas, Tassin, Andrei, Tchirkov, Giulia, Tueur, Valérie, Ugo, Laurent, Vallat, Lauren, Veronese, Patrick, Villarese, Margaux, Wiber, Loria, Zalmaï, Tamburini, Jerome, Mouche, Sarah, Larrue, Clement, Duployez, Nicolas, Bidet, Audrey, Salotti, Auriane, Hirsch, Pierre, Rigolot, Lucie, Carras, Sylvain, Templé, Marie, Favale, Fabrizia, Flandrin-Gresta, Pascale, Le Bris, Yannick, Alary, Anne-Sophie, Mauvieux, Laurent, Tondeur, Sylvie, Delabesse, Eric, Delhommeau, François, Sujobert, Pierre, Kosmider, Olivier

Publikováno v: In Blood Advances 26 December 2023 7(24):7576-7580

Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of BCR::ABL1-Negative Myeloproliferative Neoplasm

Autor: Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L’houcine Ouafik, Pierre Morange, Régis Costello, Geoffroy Venton

Publikováno v: Cells
Cells, 2023, 12 (1), pp.105. ⟨10.3390/cells12010105⟩

International audience; BCR::ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)—which are characterized by aberrant hematopoietic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebe588f4f885ae57e2f27e34bf29764
https://hal-amu.archives-ouvertes.fr/hal-03935016

Description of 22 new alpha-1 antitrypsin genetic variants

Autor: Christine Lombard, Guillaume Tosato, M.F. Odou, Colette Chapuis Cellier, Malika Balduyck, Farid Zerimech, Jordan Teoli, Philippe Joly, Norman Abbou, Nicole Porchet, Céline Renoux

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0897-0⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)

Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The lab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57fbfdd1edc23c90c51e54589bde238
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02329350