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

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

doi:10.1038/s41588-024-01941-1

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

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 CouseDaniel 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

^*Corresponding author for this work

Department of Clinical Genetics

Original language	English
Journal	Nature Genetics
Volume	56
Issue number	11
Pages (from-to)	2287-2294
Number of pages	8
ISSN	1061-4036
DOIs	https://doi.org/10.1038/s41588-024-01941-1
Publication status	Published - Nov 2024

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Delgado-Vega, A. M., Cederroth, H., Taylan, F., Ekholm, K., Ek, M., Thonberg, H., Jemt, A., Nilsson, D., Eisfeldt, J., Bilgrav Saether, K., Höijer, I., Akgun-Dogan, O., Asano, Y., Barakat, T. S., Batkovskyte, D., Baynam, G., Bodamer, O., Chetruengchai, W., Corcoran, P., ... Nordgren, A. (2024). Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nature Genetics, 56(11), 2287-2294. https://doi.org/10.1038/s41588-024-01941-1

Delgado-Vega, AM, Cederroth, H, Taylan, F, Ekholm, K, Ek, M, Thonberg, H, Jemt, A, Nilsson, D, Eisfeldt, J, Bilgrav Saether, K, Höijer, I, Akgun-Dogan, O, Asano, Y, Barakat, TS, Batkovskyte, D, Baynam, G, Bodamer, O, Chetruengchai, W, Corcoran, P, Couse, M, Danis, D, Demidov, G, Dohi, E, Erhardsson, M, Fernandez-Luna, L, Fujiwara, T, Garg, N, Giugliani, R, Gonzaga-Jauregui, C, Grigelioniene, G, Groza, T, Gunnarsson, C, Hammarsjö, A, Hammond, CK, Hatirnaz Ng, Ö, Hesketh, S, Hettiarachchi, D, Johansson Soller, M, Kirmani, UA, Kjellberg, M, Kvarnung, M, Kvlividze, O, Lagerstedt-Robinson, K, Lasko, P, Lassmann, T, Lau, LYS, Laurie, S, Lim, WK, Liu, Z, Lysenkova Wiklander, M, Makay, P, Maiga, AB, Maya-González, C, Meyn, MS, Neethiraj, R, Nigro, V, Nordgren, F, Nordlund, J, Orrsjö, S, Ottosson, J, Ozbek, U, Özdemir, Ö, Partin, C, Pearce, DA, Peck, R, Pedersen, A, Pettersson, M, Pongpanich, M, Posada de la Paz, M, Ramani, A, Romero, JA, Romero, VI, Rosenquist, R, Saw, AM, Spencer, M, Stattin, E-L, Srichomthong, C, Tapia-Paez, I, Taruscio, D, Taylor, JP, Tkemaladze, T, Tully, I, Tümer, Z, van Zelst-Stams, WAG, Verloes, A, Västerviga, E, Wang, S, Yang, R, Yamamoto, S, Yépez, VA, Zhang, Q, Shotelersuk, V, Wiafe, SA, Alanay, Y, Botto, LD, Kirmani, S, Lumaka, A, Palmer, EE, Puri, RD, Wirta, V, Lindstrand, A, Buske, OJ, Cederroth, M & Nordgren, A 2024, 'Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon', Nature Genetics, vol. 56, no. 11, pp. 2287-2294. https://doi.org/10.1038/s41588-024-01941-1

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AU - Ek, Marlene

AU - Thonberg, Håkan

AU - Jemt, Anders

AU - Nilsson, Daniel

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AU - Bilgrav Saether, Kristine

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AU - Tkemaladze, Tinatin

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AU - Tümer, Zeynep

AU - van Zelst-Stams, Wendy A G

AU - Verloes, Alain

AU - Västerviga, Emma

AU - Wang, Sailan

AU - Yang, Rachel

AU - Yamamoto, Shinya

AU - Yépez, Vicente A

AU - Zhang, Qing

AU - Shotelersuk, Vorasuk

AU - Wiafe, Samuel Agyei

AU - Alanay, Yasemin

AU - Botto, Lorenzo D

AU - Kirmani, Salman

AU - Lumaka, Aimé

AU - Palmer, Elizabeth Emma

AU - Puri, Ratna Dua

AU - Wirta, Valtteri

AU - Lindstrand, Anna

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AU - Cederroth, Mikk

AU - Nordgren, Ann

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

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