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

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Hakan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Hoeijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Padraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjoe, Anna; Hammond, Charles Kumi; Hatirnaz Ng, OEzden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y. S.; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-Gonzalez, Carolina; Meyn, M. Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A.; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I.; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P.; Tkemaladze, Tinatin; Tully, Ian; Tuemer, Zeynep; van Zelst-Stams, Wendy A. G.; Verloes, Alain; Vaesterviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yepez, Vicente A.; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D.; Kirmani, Salman; Lumaka, Aime; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J.; Cederroth, Mikk; Nordgren, Ann

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

Delgado-Vega, Angelica Maria

Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden.

Cederroth, Helene

Wilhelm Fdn, Sweden.

Taylan, Fulya

Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden.

Ekholm, Katja

Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden.

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2024 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 56, no 11, p. 2287-2294Article in journal, Editorial material (Other academic) Published

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NATURE PORTFOLIO , 2024. Vol. 56, no 11, p. 2287-2294

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URN: urn:nbn:se:liu:diva-212047DOI: 10.1038/s41588-024-01941-1ISI: 001412256300001PubMedID: 39433890Scopus ID: 2-s2.0-85208710649OAI: oai:DiVA.org:liu-212047DiVA, id: diva2:1942530

Note

Funding Agencies|Wilhelm Foundation; Chan Zuckerberg Initiative; Karolinska Undiagnosed Diseases Program; Swedish Brain Foundation [FO2021-0177]; Hallsten Research Foundation; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA (EU Framework Partnership ) [3HP-HP-FPA ERN-01-2016/739516]

Available from: 2025-03-05 Created: 2025-03-05 Last updated: 2025-08-13

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