Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

doi:10.1186/s13073-021-00855-5

Article

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome medicine - 17 Mar 2021

Stranneheim Henrik, Lagerstedt-Robinson Kristina, Magnusson Måns, Kvarnung Malin, Nilsson Daniel, Lesko Nicole, Engvall Martin, Anderlid Britt-Marie, Arnell Henrik, Johansson Carolina Backman, Barbaro Michela, Björck Erik, Bruhn Helene, Eisfeldt Jesper, Freyer Christoph, Grigelioniene Giedre, Gustavsson Peter, Hammarsjö Anna, Hellström-Pigg Maritta, Iwarsson Erik, Jemt Anders, Laaksonen Mikael, Enoksson Sara Lind, Malmgren Helena, Naess Karin, Nordenskjöld Magnus, Oscarson Mikael, Pettersson Maria, Rasi Chiara, Rosenbaum Adam, Sahlin Ellika, Sardh Eliane, Stödberg Tommy, Tesi Bianca, Tham Emma, Thonberg Håkan, Töhönen Virpi, von Döbeln Ulrika, Vassiliou Daphne, Vonlanthen Sofie, Wikström Ann-Charlotte, Wincent Josephine, Winqvist Ola, Wredenberg Anna, Ygberg Sofia, Zetterström Rolf H, Marits Per, Soller Maria Johansson, Nordgren Ann, Wirta Valtteri, Lindstrand Anna, Wedell Anna

Abstract excerpt

BACKGROUND: We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a long-term collaborative initiative between Karolinska University Hospital and Science for Life Laboratory to establish advanced, genomics-based diagnostics in the...

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Abstract excerpt

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