Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenAngelica Maria Delgado-Vega, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Daniel Nilsson, Jesper Eisfeldt, Giedre Grigelioniene, Anna Hammarsjö, Maria Johansson Soller, Malin Kvarnung, Kristina Lagerstedt-Robinson, Maria Pettersson, Richard Rosenquist, Valtteri Wirta, Anna Lindstrand & Ann NordgrenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenAngelica Maria Delgado-Vega, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Dominyka Batkovskyte, Giedre Grigelioniene, Anna Hammarsjö, Maria Johansson Soller, Malin Kvarnung, Kristina Lagerstedt-Robinson, Carolina Maya-González, Maria Pettersson, Richard Rosenquist, Anna Lindstrand & Ann NordgrenWilhelm Foundation, Brottby, SwedenHelene Cederroth & Mikk CederrothScience for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, SwedenAnders Jemt, Ramprasad Neethiraj & Valtteri WirtaGenomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, SwedenAnders Jemt & Richard RosenquistScience for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDaniel Nilsson, Jesper Eisfeldt & Kristine Bilgrav SaetherDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, SwedenIda Höijer & Pádraic CorcoranScience for Life Laboratory, Uppsala University, Uppsala, SwedenIda Höijer, Pádraic Corcoran, Mariya Lysenkova Wiklander & Jessica NordlundDivision of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, TurkeyOzlem Akgun-Dogan, Charles Kumi Hammond & Yasemin AlanayACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, TurkeyOzlem Akgun-Dogan, Özden Hatirnaz Ng, Ugur Ozbek, Özkan Özdemir & Yasemin AlanayDepartment of Medical Genetics, Acibadem University, Istanbul, TurkeyOzlem Akgun-Dogan, Özden Hatirnaz Ng & Yasemin AlanaySwallow Design Studio, Tokyo, JapanYui AsanoDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the NetherlandsTahsin Stefan BarakatDiscovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the NetherlandsTahsin Stefan BarakatENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the NetherlandsTahsin Stefan BarakatRare Care Centre, Perth Children’s Hospital, Perth, Western Australia, AustraliaGareth Baynam & Tudor GrozaWestern Australian Register of Developmental Anomalies, Perth, Western Australia, AustraliaGareth BaynamUndiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, AustraliaGareth BaynamFaculty of Medicine, Australian National University, Perth, Western Australia, AustraliaGareth BaynamDepartment of Pediatrics, Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USAOlaf BodamerCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, ThailandWanna Chetruengchai, Chalurmpon Srichomthong & Vorasuk ShotelersukExcellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, ThailandWanna Chetruengchai, Chalurmpon Srichomthong & Vorasuk ShotelersukCentre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, CanadaMadeline CouseThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USADaniel DanisInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyGerman DemidovNational Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JapanEisuke DohiDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, SwedenMattias ErhardssonInternational Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, MexicoLuis Fernandez-Luna & Claudia Gonzaga-JaureguiDatabase Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, JapanToyofumi FujiwaraInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, IndiaNeha Garg & Ratna Dua PuriCasa dos Raros, Porto Alegre, BrazilRoberto GiuglianiDepartment of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, BrazilRoberto GiuglianiMedical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, BrazilRoberto GiuglianiDasa Genomica, São Paulo, BrazilRoberto GiuglianiSingHealth Duke-NUS Institute of Precision Medicine, Singapore, SingaporeTudor Groza & Weng Khong LimTelethon Kids Institute, Perth, Western Australia, AustraliaTudor GrozaSchool of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, AustraliaTudor GrozaDepartment of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, SwedenCecilia GunnarssonDepartment of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, GhanaCharles Kumi HammondDepartment of Medical Biology, School of Medicine, Acibadem University, Istanbul, TurkeyÖzden Hatirnaz Ng & Özkan ÖzdemirOxford Nanopore Technologies, Oxford, UKSirisha HeskethDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri LankaDineshani HettiarachchiKarachi Grammar School, Karachi, PakistanUmn Ahmed KirmaniKTH Royal Institute of Technology, Stockholm, SwedenMartin KjellbergSchool of Medicine, New Vision University, Tbilisi, GeorgiaOleg KvlividzeGeorgian Foundation for Genetic and Rare Diseases, Tbilisi, GeorgiaOleg KvlividzeDepartment of Biology, McGill University, Montreal, Quebec, CanadaPaul LaskoTelethon Kids Institute, University of Western Australia, Perth, Western Australia, AustraliaTimo LassmannGenome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, CanadaLynette Y. S. LauCentro Nacional de Análisis Genómico (CNAG), Barcelona, SpainSteven LaurieUniversitat de Barcelona (UB), Barcelona, SpainSteven LaurieCancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, SingaporeWeng Khong LimSingHealth Duke-NUS Genomic Medicine Centre, Singapore, SingaporeWeng Khong LimGenome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, SingaporeWeng Khong LimBaylor College of Medicine, One Baylor Plaza, Houston, TX, USAZhandong LiuDepartment of Medical Sciences, Uppsala University, Uppsala, SwedenMariya Lysenkova Wiklander & Jessica NordlundCentre for Human Genetics, University of Kinshasa, Kinshasa, DR, CongoPrince Makay & Aimé LumakaFaculté de Médecine et d’Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, MaliAlassane Baneye MaigaCenter for Human Genomics and Precision Medicine, University of Wisconsin–Madison, Madison, WI, USAM. Stephen MeynDepartment of Pediatrics, University of Wisconsin–Madison, Madison, WI, USAM. Stephen MeynSchool of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, SwedenRamprasad NeethirajDepartment of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, ItalyVincenzo NigroTIGEM (Telethon Institute of Genetics and Medicine), Naples, ItalyVincenzo NigroDepartment of Management and Engineering, Linköping University, Linköping, SwedenFelix NordgrenDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, SwedenSara Orrsjö, Jesper Ottosson, Annie Pedersen & Ann NordgrenDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, SwedenSara Orrsjö, Jesper Ottosson, Annie Pedersen & Ann NordgrenRare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, TurkeyUgur OzbekMedicine, Emory Healthcare, Emory University, Atlanta, GA, USAClyde PartinEmory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USAClyde PartinSanford Research, Sioux Falls, SD, USADavid A. PearceSanford Health, Sioux Falls, SD, USADavid A. PearceDepartment of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USADavid A. PearceInternational Rare Disease Research Consortium (IRDiRC) https://irdirc.org/David A. PearceClarion I, London, UKRaquel PeckDepartment of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, ThailandMonnat PongpanichOmics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, ThailandMonnat PongpanichSpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, SpainManuel Posada de la PazFCSAI, Madrid, SpainManuel Posada de la PazInvitae, San Francisco, CA, USAArun RamaniUniversidad San Francisco de Quito, Quito, EcuadorJuan Andres Romero & Vanessa I. RomeroThe Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UKAung Min Saw, Matthew Spencer & Ian TullyDepartment of Neurology, University Hospital of Wales, Cardiff, UKAung Min SawDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, SwedenEva-Lena StattinDivision of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, SwedenIsabel Tapia-Paez & Sailan WangNational Centre for Rare Diseases, Istituto Superiore di Sanità , Rome, ItalyDomenica TaruscioStudy Centre KOS–Science, Art, Society, Rome, ItalyDomenica TaruscioIllumina Inc, San Diego, CA, USAJulie P. Taylor & Qing ZhangDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaTinatin TkemaladzeDepartment of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, GeorgiaTinatin TkemaladzeCenter for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, GeorgiaTinatin TkemaladzeDepartment of Clinical Genetics, University Hospital of Wales, Cardiff, UKIan TullyKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, DenmarkZeynep TümerDepartment of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, DenmarkZeynep TümerDepartment of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the NetherlandsWendy A. G. van Zelst-StamsERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders https://ern-ithaca.eu/Alain VerloesDepartment of Clinical Genetics, Robert-Debré Hospital, Paris, FranceAlain VerloesBioinformatics and Data Centre, Gothenburg University, Gothenburg, SwedenEmma VästervigaBioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, SwedenEmma VästervigaRare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, ChinaRachel YangChina Alliance for Rare Diseases, Beijing, ChinaRachel YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USAShinya YamamotoJan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USAShinya YamamotoSchool of Computation, Information and Technology, Technical University of Munich, Garching, GermanyVicente A. YépezRare Disease Ghana Initiative, Accra, GhanaSamuel Agyei WiafeDivision of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USALorenzo D. BottoDivision of Women & Child Health, Aga Khan University, Karachi, PakistanSalman KirmaniDepartment of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, CongoAimé LumakaAfrican Rare Diseases Initiative https://www.ardi.africa/Aimé LumakaDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, AustraliaElizabeth Emma PalmerCentre for Clinical Genetics, Sydney Children’s Hospitals Network, Randwick, New South Wales, AustraliaElizabeth Emma PalmerGanga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, IndiaRatna Dua PuriPhenoTips, Toronto, Ontario, CanadaOrion J. BuskeH.C., M. Cederroth, A.N., A.M.D.V. and O.B. conceptualized and designed the Undiagnosed Hackathon. Biological samples and phenotype data were collected by A.M.D.V., A.N., H.C., M. Cederroth, R.Y., V.S., S.A.W., Y. Alanay, L.D.B., S.K., A. Lumaka and R.D.P. Samples were processed and analyzed under the coordination of A.M.D.V, F.T., K.E., M. Ek, H.T., A.J., D.N., J.E., K.B.S, I.H., J.N. A. Lindstrand, A.N. and V.W. All authors participated in the analysis and interpretation of the data during the event and through regular collaborative discussions meetings after the event. The manuscript was drafted by A.M.D.V, H.C., M. Cederroth, F.T., A. Lindstrand, G.B., E.E.P., L.D.B., O.B. and A.N., with significant contributions and critical feedback from all authors. A.N., H.C. and M. Cederroth secured funding for the event. All authors have reviewed and approved the final version of the manuscript.
