The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Abstract Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease diagnostics, increasingly done through gene panels, whole exome and wh...

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Autori principali:	Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung, Sofia Ygberg, Sofie Vonlanthen, Mikael Oscarson, Daniel Nilsson, Nicole Lesko, Angelo Salazar Mantero, Britt-Marie Anderlid, Henrik Arnell, Cecilia Arthur, Svetlana Bajalica-Lagercrantz, Michela Barbaro, Peter Bergman, Erik Björck, Oda Blomqvist Picard, Helene Bruhn, Jonas Carlsten, Sandrina P. Correia, Karl De Geer, Angelica M. Delgado Vega, Emma Ehn, Jesper Eisfeldt, Marlene Ek, Ingegerd Elvers, Martin Engvall, Christoph Freyer, Sofia Frisk, Caroline Graff, Giedré Grigelioniené, Peter Gustafsson, Anna Hammarsjö, Hafdis T. Helgadottir, Maritta Hellström Pigg, Olivia J. Henry, Moa Hägglund, Erik Iwarsson, Vincent Janvid, Maria Johansson Soller, Leif Sundin, Ekaterina Kuchinskaya, Anders Kämpe, Anna Leinfelt, Agne Liedén, Hillevi Lindelöf, Anna Lyander, Helena Malmgren, Maria Mannila, Per Marits, Karin Naess, Ramprasad Neethiraj, Karl Nyren, Christoforos Pappas, Martin Paucar, Nadja Pekkola Pacheco, Lucia Peña Perez, Maria Pettersson, Peter Pruisscher, Chiara Rasi, Annick Renevey, Sophia Rössner, Ellika Sahlin, Erik Stenund, Tommy Stödberg, Mikael Sundin, Karl Svärd, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Malin Ueberschär, Karin Wallander, Eini Westenius, Johanna Winberg, Nerges Winblad, Josephine Wincent, Malin Winerdal, Anna Wredenberg, Anna Zetterlund, Rolf H. Zetterström, Ingegerd Öfverholm, Ann Nordgren, Henrik Stranneheim, Valtteri Wirta, Anna Wedell
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2026-03-01
Serie:	Genome Medicine
Soggetti:	Genome sequencing Rare diseases Clinical diagnostics Single nucleotide variants Chromosomal rearrangements Structural variants
Accesso online:	https://doi.org/10.1186/s13073-026-01611-3
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