Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Autor: Delgado-Vega AM; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. angelica.delgado.vega@ki.se., Cederroth H; Wilhelm Foundation, Brottby, Sweden., Taylan F; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ekholm K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ek M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Thonberg H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Jemt A; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Eisfeldt J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bilgrav Saether K; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Asano Y; Swallow Design Studio, Tokyo, Japan., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Undiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Medicine, Australian National University, Perth, Western Australia, Australia., Bodamer O; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Corcoran P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Couse M; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Dohi E; National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Erhardsson M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fernandez-Luna L; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Fujiwara T; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan., Garg N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Giugliani R; Casa dos Raros, Porto Alegre, Brazil.; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Dasa Genomica, São Paulo, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Grigelioniene G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Telethon Kids Institute, Perth, Western Australia, Australia.; School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, Australia., Gunnarsson C; Department of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden., Hammarsjö A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Hammond CK; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; Department of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hatirnaz Ng Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Hesketh S; Oxford Nanopore Technologies, Oxford, UK., Hettiarachchi D; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Johansson Soller M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kirmani UA; Karachi Grammar School, Karachi, Pakistan., Kjellberg M; KTH Royal Institute of Technology, Stockholm, Sweden., Kvarnung M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kvlividze O; School of Medicine, New Vision University, Tbilisi, Georgia.; Georgian Foundation for Genetic and Rare Diseases, Tbilisi, Georgia., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lasko P; Department of Biology, McGill University, Montreal, Quebec, Canada., Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Lau LYS; Genome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Liu Z; Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lysenkova Wiklander M; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Makay P; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo., Maiga AB; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Maya-González C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA., Neethiraj R; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; School of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Nigro V; Department of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.; TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy., Nordgren F; Department of Management and Engineering, Linköping University, Linköping, Sweden., Nordlund J; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Orrsjö S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ozbek U; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Rare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, Turkey., Özdemir Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Partin C; Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.; Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA., Pearce DA; Sanford Research, Sioux Falls, SD, USA.; Sanford Health, Sioux Falls, SD, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.; International Rare Disease Research Consortium (IRDiRC)., Peck R; Clarion I, London, UK., Pedersen A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Pettersson M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Pongpanich M; Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.; Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, Thailand., Posada de la Paz M; SpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.; FCSAI, Madrid, Spain., Ramani A; Invitae, San Francisco, CA, USA., Romero JA; Universidad San Francisco de Quito, Quito, Ecuador., Romero VI; Universidad San Francisco de Quito, Quito, Ecuador., Rosenquist R; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Saw AM; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Neurology, University Hospital of Wales, Cardiff, UK., Spencer M; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Tapia-Paez I; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Study Centre KOS-Science, Art, Society, Rome, Italy., Taylor JP; Illumina Inc, San Diego, CA, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.; Center for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, Georgia., Tully I; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Clinical Genetics, University Hospital of Wales, Cardiff, UK., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, Denmark., van Zelst-Stams WAG; Department of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands., Verloes A; ERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Västerviga E; Bioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.; Bioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, Sweden., Wang S; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Yang R; Rare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.; China Alliance for Rare Diseases, Beijing, China., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany., Zhang Q; Illumina Inc, San Diego, CA, USA., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Botto LD; Division of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA., Kirmani S; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan., Lumaka A; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, Congo.; African Rare Diseases Initiative., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.; Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, India., Wirta V; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden., Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Cederroth M; Wilhelm Foundation, Brottby, Sweden., Nordgren A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. ann.nordgren@ki.se.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ann.nordgren@ki.se.

Publikováno v: Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2287-2294.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Recent literature on bryophytes — 127(3).

Autor: Atwood, John J.¹ (AUTHOR) john.atwood@mobot.org, Buck, William R.² (AUTHOR), Brinda, John C.¹ (AUTHOR)

Publikováno v: Bryologist. Fall2024, Vol. 127 Issue 3, p366-399. 34p.