1. Additional file 1 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
- Author
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Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Britt-Marie Anderlid, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Giedre Grigelioniene, 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, Ellika Sahlin, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, Döbeln, Ulrika Von, Vassiliou, Daphne, Vonlanthen, Sofie, Ann-Charlotte Wikström, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, and Wedell, Anna
- Abstract
Additional file 1: Supplementary methods, Table S1. List of SNPs used for genotyping, Table S2. In house developed open source software used, Table S3. Publicly available open source software used, Table S4. Publicly available databases used, Table S5. Cases with a dual diagnosis. Figure S1. Steps performed in the MIP rare disease pipeline, Figure S2. Turnaround time per quarter, Figure S3. Statistics regarding number genes and patients.
- Published
- 2021
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