Chairs: Thierry Voet & Malte Spielman
Virtual Session Room 5
Deciphering genomic inversions
C. M. Grochowski1, M. Pettersson2, J. Eisfeldt2, M. Gandhi1,3, D. Pehlivan1, C. Gonzaga-Jauregui4, M. Withers1, P. Stankiewicz1,5, A. C. V. Krepischi6, J. R. Lupski1, A. Lindstrand2, C. M. B. Carvalho1;
1Baylor College of Medicine, Houston, TX, United States, 2Karolinska Institutet, Stockholm, Sweden, 3University of Texas MD Anderson Cancer Center, Houston, TX, United States, 4Regeneron, Tarrytown, NY, United States, 5Baylor Genetics, Houston, TX, United States, 6University of São Paulo, SP, Brazil.
Polymorphic inversions underlie the shared genetic susceptibility of obesity-related diseases
J. R. Gonzalez1, C. Ruiz1, A. Caceres1, I. Moran2, M. Lopez1, L. Alonso2, I. Tolosana1, M. Guindo-Martinez3, J. M. Mercader3, T. Esko4, D. Torrents2, J. Gonzalez5, L. A. Perez-Jurado5;
1Barcelona Institute for Global Health, BARCELONA, Spain, 2Barcelona Supercomputing Center, BARCELONA, Spain, 3Broad Institute, BOSTON, MA, United States, 4University of Tartu, BARCELONA, Estonia, 5Universitat Pompeu Fabra, BARCELONA, Spain.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
E. V. Feofanova, the Blood Pressure‐International Consortiumof Exome chip Studies (BP‐ICE), CHARGE consortium, CHD Exome+, Exome BP, GoT2D:T2Dgenes, deCODE, the Million Veteran Program (MVP);
Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, United States.
Multi-Omics integration for molecular diagnostics of mendelian disorders
R. Kopajtich1,2, D. Smirnov1,2, S. Loipfinger3, C. Meng4, D. Ghezzi5, K. Murayama6, J. A. Mayr7, P. Freisinger8, M. D. Metodiev9, A. Rötig9, T. Klopstock10, G. F. Hoffmann11, R. Santer12, F. Distelmaier13, R. Olsen14, D. Piekutowska-Abramczuk15, P. Verloo16, C. Lamperti5, J. Gagneur3, C. Ludwig4, H. Prokisch1,2;
1Institute of Human Genetics, Technical University Munich, München, Germany, 2Institute of Neurogenomics, Helmholtz Center Munich, Munich, Germany, 3Department of Informatics, Technical University Munich, Garching, Germany, 4Bavarian Center for Biomolecular Mass Spectrometry, BayBioMS, Technical University Munich, Freising, Germany, 5Unit of Molecular Neurogenetics, Istituto Neurologico ‘‘Carlo Besta, Milan, Italy, 6Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan, 7Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria, 8Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany, 9INSERM U1163, Université Paris, Institut Imagine, Paris, France, 10Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany, 11Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany, 12University Medical Center Eppendorf, Hamburg, Germany, 1313Department of General Pediatrics, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany, 1414Research Unit for Molecular Medicine, Aarhus University and University Hospital, Aarhus N, Denmark, 15Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland, 16Department of Internal Medicine and Paediatrics, Ghent University Hospital, Ghent, Belgium.
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
S. L. Stenton1,2, N. Sheremet3, C. Catarino4, N. Andreeva3, Z. Assouline5, P. Barboni6, O. Barel7, I. Bychkov8, L. Caporali9, P. Charbel Issa10, P. Freisinger11, S. Gerber12, D. Ghezzi13, J. Heidler14, M. Hempel15, E. Heon16, Y. Itkis17, E. Javasky7, J. Kaplan12, R. Kopajtich1,2, C. Kornblum18, R. Kovacs-Nagy19,1, T. Krylova8, W. Kunz20, C. La Morgia9, C. Lamperti13, C. Ludwig21, P. Malacarne22, J. Mayr23, J. Meisterknecht14, T. Nevinitsyna3, F. Palombo9, B. Pode-Shakked24, M. Shmelkova3, M. Tzadok24, A. van der Ven15, C. Vignal-Clermont25, M. Wagner1, E. Zakharova8, N. Zhorzholadze3, J. Rozet12, V. Carelli9, P. Tsygankova8, T. Klopstock4, I. Wittig14, H. Prokisch1,2;
1Institute of Human Genetics, Technische Universität München, München, Germany, 2Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany, 3Federal State Budgetary Institution of Science “Research Institute of Eye Diseases”, Moscow, Russian Federation, 4Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, München, Germany, 5Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France, 6Scientific Institute San Raffaele, Milan, Italy, 7Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel, 8Research Centre for Medical Genetics, Moscow, Russian Federation, 9IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, 10Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom, 11Department of Pediatrics, Klinikum am Steinenberg, Reutlingen, Germany, 12Laboratory genetics in ophthalmology (LGO), INSERM UMR1163 – Institute of genetic diseases, Imagine, Paris, France, 13Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, 14Functional Proteomics, SFB815 Core Unit, Medical School, Goethe University, Frankfurt am Main, Germany, 15Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, 16The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, The University of Toronto, Toronto, ON, Canada, 17Research Centre for Medical Genetics, Moscow, Moscow, Russian Federation, 18Department of Neurology, University Hospital Bonn, Bonn, Germany, 19Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary, 20Department of Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany, 21Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technische Universität München, München, Germany, 22Institute for Cardiovascular Physiology, Goethe-University, Frankfurt am Main, Germany, 23Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria, 24Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel, 25Ophthalmology Department, Centre National d’Ophtalmologie des Qinze-Vingts, Paris, France.
WES profiling of COVID-19
A. Renieri1,2, E. Benetti3, F. Montagnani3,4, R. Tita2, C. Fallerini1, S. Amitrano2, M. Bruttini2, G. Doddato1, A. Giliberti1, F. Valentino1, S. Croci1, L. Di Sarno1, F. Fava1,2, M. Baldassarri1, A. Tommasi1,2, M. Palmieri1, A. Emiliozzi3,4, M. Fabbiani4, B. Rossetti4, G. Zanelli3,4, L. Bergantini5, M. D’Alessandro5, P. Cameli5, D. Bennet5, F. Anedda6, S. Marcantonio6, S. Scolletta6, F. Franchi6, M. Mazzei7, E. Conticini8, L. Cantarini9, B. Frediani10, D. Tacconi11, M. Feri12, R. Scala13, A. Ognibene14, G. Spargi15, C. Nencioni16, G. Caldarelli17, M. Spagnesi18, A. Canaccini19, E. Frullanti1, I. Meloni1, M. Mencarelli2, C. Lo Rizzo2, A. Pinto2, E. Bargagli5, M. Mandalà20, S. Furini3, F. Mari1,2;
1Medical Genetics, University of Siena, Siena, Italy, 2Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy, 3Dept of Medical Biotechnologies, University of Siena, Siena, Italy, 4Dept of Specialized and Internal Medicine, Tropical and Infectious Diseases Unit, Siena, Italy, 5Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena, Siena, Italy, 6Dept of Emergency and Urgency, Medicine, Surgery and Neurosciences, Unit of Intensive Care Medicine, Siena University Hospital, Siena, Italy, 7Dept of Medical, Surgical and Neuro Sciences, Diagnostic Imaging, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy, 8Rheumatology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Le Scotte, Siena, Italy, 9Dept of Medical Sciences, University of Siena, Siena, Italy, 10Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy, 11Dept of Specialized and Internal Medicine, Infectious Diseases Unit, San Donato Hospital Arezzo, Arezzo, Italy, 12Dept of Emergency, Anesthesia Unit, San Donato Hospital, Arezzo, Italy, 13Dept of Specialized and Internal Medicine, Pneumology Unit and UTIP, San Donato Hospital, Arezzo, Italy, 14Clinical Chemical Analysis Laboratory, San Donato Hospital, Arezzo, Italy, 15Dept of Emergency, Anesthesia Unit, Misericordia Hospital, Grosseto, Italy, 16Dept of Specialized and Internal Medicine, Infectious Diseases Unit, Misericordia Hospital, Grosseto, Italy, 17Clinical Chemical Analysis Laboratory, Misericordia Hospital, Grosseto, Italy, 18Dept of Prevention, ASL South-East Tuscany, ASL South-East Tuscany, Italy, 19Territorial Scientific Technician Department, ASL South-East Tuscany, ASL South-East Tuscany, Italy, 20Otolaryngology Unit, University of Siena, Siena, Italy.