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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Nature Genetics ( IF 31.7 ) Pub Date : 2024-10-21 , DOI: 10.1038/s41588-024-01941-1 Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Saether, Ida Höijer, Ozlem Akgun-Dogan, Yui Asano, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Danis, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga-Jauregui, Giedre Grigelioniene, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Kumi Hammond, Özden Hatirnaz Ng, Sirisha Hesketh, Dineshani Hettiarachchi, Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt-Robinson, Paul Lasko, Timo Lassmann, Lynette Y. S. Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maiga, Carolina Maya-González, M. Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Ugur Ozbek, Özkan Özdemir, Clyde Partin, David A. Pearce, Raquel Peck, Annie Pedersen, Maria Pettersson, Monnat Pongpanich, Manuel Posada de la Paz, Arun Ramani, Juan Andres Romero, Vanessa I. Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva-Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia-Paez, Domenica Taruscio, Julie P. Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A. G. van Zelst-Stams, Alain Verloes, Emma Västerviga, Sailan Wang, Rachel Yang, Shinya Yamamoto, Vicente A. Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D. Botto, Salman Kirmani, Aimé Lumaka, Elizabeth Emma Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J. Buske, Mikk Cederroth, Ann Nordgren
Nature Genetics ( IF 31.7 ) Pub Date : 2024-10-21 , DOI: 10.1038/s41588-024-01941-1 Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Saether, Ida Höijer, Ozlem Akgun-Dogan, Yui Asano, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Danis, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga-Jauregui, Giedre Grigelioniene, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Kumi Hammond, Özden Hatirnaz Ng, Sirisha Hesketh, Dineshani Hettiarachchi, Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt-Robinson, Paul Lasko, Timo Lassmann, Lynette Y. S. Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maiga, Carolina Maya-González, M. Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Ugur Ozbek, Özkan Özdemir, Clyde Partin, David A. Pearce, Raquel Peck, Annie Pedersen, Maria Pettersson, Monnat Pongpanich, Manuel Posada de la Paz, Arun Ramani, Juan Andres Romero, Vanessa I. Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva-Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia-Paez, Domenica Taruscio, Julie P. Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A. G. van Zelst-Stams, Alain Verloes, Emma Västerviga, Sailan Wang, Rachel Yang, Shinya Yamamoto, Vicente A. Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D. Botto, Salman Kirmani, Aimé Lumaka, Elizabeth Emma Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J. Buske, Mikk Cederroth, Ann Nordgren
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In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.
中文翻译：
在首届 Undiagnosed Hackathon 的帮助下突破罕见病诊断的界限
在首届未确诊黑客马拉松中，来自 28 个国家/地区的近 100 名专家在 48 小时内结合了先进的表型分析和基因组技术，最终为 40% 的先前未确诊的家庭提供了诊断。这个鼓舞人心的模型展示了多学科合作和患者伙伴关系在精准诊断中的力量。
更新日期：2024-10-21
中文翻译：
在首届 Undiagnosed Hackathon 的帮助下突破罕见病诊断的界限
在首届未确诊黑客马拉松中，来自 28 个国家/地区的近 100 名专家在 48 小时内结合了先进的表型分析和基因组技术，最终为 40% 的先前未确诊的家庭提供了诊断。这个鼓舞人心的模型展示了多学科合作和患者伙伴关系在精准诊断中的力量。
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