Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer.

Autor: Boidot R; Unit of Molecular Biology, Department of Biology and Pathology of Tumors, Georges-François Leclerc Cancer Center - UNICANCER, Dijon, France., Blum MGB; SeqOne Genomics, Montpellier, France. Electronic address: michael.blum@seqone.com., Wissler MP; CYPATH, Villeurbanne, France., Gottin C; SeqOne Genomics, Montpellier, France., Ruzicka J; SeqOne Genomics, Montpellier, France., Chevrier S; Unit of Molecular Biology, Department of Biology and Pathology of Tumors, Georges-François Leclerc Cancer Center - UNICANCER, Dijon, France., Delhomme TM; SeqOne Genomics, Montpellier, France., Audoux J; SeqOne Genomics, Montpellier, France., Jeanniard A; Agilent Technologies France, Les Ulis, France., Just PA; APHM (Assistance Publique - Hôpitaux de Marseille), Service de Pathologie Hôpitaux et services de santé, Marseille, Provence-Alpes-Côte d'Azur, France., Harter P; Department of Gynecology & Gynecologic Oncology, Kliniken Essen-Mitte, Essen, Germany., Pignata S; Department of Urology and Gynecology, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, and Multicenter Italian Trials in Ovarian Cancer and Gynecologic Malignancies (MITO), Naples, Italy., González-Martin A; Clinica Universidad de Navarra,GEICO, Madrid, Spain., Marth C; Department of Obstetrics and Gynecology, Medical University Innsbruck, Innsbruck, Austria., Mäenpää J; Tampere University Hospital, Department of Obstetrics and Gynecology, Finland., Colombo N; University of Milan-Bicocca and European Institute of Oncology IRCCS, Milan, Italy., Vergote I; University Hospital Leuven, Leuven Cancer Institute, Leuven, Belgium, European Union., Fujiwara K; Saitama Medical University International Medical Center, Saitama, Japan., Duforet-Frebourg N; SeqOne Genomics, Montpellier, France., Bertrand D; SeqOne Genomics, Montpellier, France., Philippe N; SeqOne Genomics, Montpellier, France., Ray-Coquard I; Centre Léon BERARD, and University Claude Bernard Lyon I, Lyon and Groupe d'Investigateurs Nationaux pour l'Etude des Cancers Ovariens (GINECO), Lyon, France., Pujade-Lauraine E; Association de Recherche Cancers Gynécologiques (ARCAGY-GINECO), Paris, France.

Publikováno v: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2024 May; Vol. 202, pp. 113978. Date of Electronic Publication: 2024 Mar 02.

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Autor: Yauy K; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France; SeqOne Genomics, Montpellier, France. Electronic address: kevin.yauy@univ-grenoble-alpes.fr., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Baert-Desurmont S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Trost D; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Boughalem A; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Luscan A; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Costa JM; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Geromel V; Laboratoire Eurofins Biomnis, Lyon, France., Raymond L; Laboratoire Eurofins Biomnis, Lyon, France., Richard P; Unité Fonctionnelle de Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaire Pitié Salpêtrière-Charles Foix, Paris, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Broutin M; SeqOne Genomics, Montpellier, France., Lanos R; SeqOne Genomics, Montpellier, France., Fort Q; SeqOne Genomics, Montpellier, France., Cackowski S; Grenoble Institut Neurosciences, GIN, Inserm U1216, Université de Grenoble Alpes, Grenoble, France., Testard Q; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France; Laboratoire Eurofins Biomnis, Lyon, France., Diallo A; SeqOne Genomics, Montpellier, France., Soirat N; SeqOne Genomics, Montpellier, France., Holder JM; SeqOne Genomics, Montpellier, France., Duforet-Frebourg N; SeqOne Genomics, Montpellier, France., Bouge AL; SeqOne Genomics, Montpellier, France., Beaumeunier S; SeqOne Genomics, Montpellier, France., Bertrand D; SeqOne Genomics, Montpellier, France., Audoux J; SeqOne Genomics, Montpellier, France., Genevieve D; Medical Genetic Department for Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France., Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique des Hôpitaux de Paris, Paris, France; UMR_S1155, INSERM, Sorbonne Université, Paris, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Thevenon J; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France., Philippe N; SeqOne Genomics, Montpellier, France.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1316-1327. Date of Electronic Publication: 2022 Mar 17.

Kmerator Suite: design of specific k -mer signatures and automatic metadata discovery in large RNA-seq datasets.

Autor: Riquier S; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Bessiere C; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Guibert B; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Bouge AL; SeqOne, 34000, Montpellier, France., Boureux A; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Ruffle F; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Audoux J; SeqOne, 34000, Montpellier, France., Gilbert N; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France., Xue H; Institute for Integrative Biology of the Cell, CEA, CNRS, Université Paris-Saclay, 91198, Gif sur Yvette, France., Gautheret D; Institute for Integrative Biology of the Cell, CEA, CNRS, Université Paris-Saclay, 91198, Gif sur Yvette, France., Commes T; IRMB, University of Montpellier, INSERM, 80 rue Augustin Fliche, 34295, Montpellier, France.

Publikováno v: NAR genomics and bioinformatics [NAR Genom Bioinform] 2021 Jun 23; Vol. 3 (3), pp. lqab058. Date of Electronic Publication: 2021 Jun 23 (Print Publication: 2021).

Distribution rules of 8-mer spectra and characterization of evolution state in animal genome sequences.

Autor: Li, Xiaolong¹ (AUTHOR), Li, Hong¹ (AUTHOR) ndlihong@imu.edu.cn, Yang, Zhenhua² (AUTHOR), Wang, Lu¹ (AUTHOR)

Publikováno v: BMC Genomics. 9/12/2024, Vol. 25 Issue 1, p1-14. 14p.

RNA-Seq Analysis to Detect Abnormal Fusion Transcripts Linked to Chromothripsis.

Autor: Bougé AL; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France., Rufflé F; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France., Riquier S; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France., Guibert B; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France., Audoux J; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France., Commes T; Institut de Médecine Régénératrice et de Biothérapie, INSERM U1183, CHU Montpellier, Montpellier, France. therese.commes@inserm.fr.; Institut de Biologie Computationnelle, Université de Montpellier, Montpellier, France. therese.commes@inserm.fr.

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1769, pp. 133-156.