Title |
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
|
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Published in |
Genome Medicine, March 2021
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DOI | 10.1186/s13073-021-00855-5 |
Pubmed ID | |
Authors |
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 10 | 16% |
United Kingdom | 7 | 11% |
Sweden | 6 | 10% |
Spain | 2 | 3% |
India | 2 | 3% |
Germany | 2 | 3% |
Uganda | 1 | 2% |
Brazil | 1 | 2% |
South Africa | 1 | 2% |
Other | 3 | 5% |
Unknown | 28 | 44% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 38 | 60% |
Scientists | 21 | 33% |
Practitioners (doctors, other healthcare professionals) | 2 | 3% |
Science communicators (journalists, bloggers, editors) | 2 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 199 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 33 | 17% |
Researcher | 27 | 14% |
Student > Master | 16 | 8% |
Other | 13 | 7% |
Student > Bachelor | 12 | 6% |
Other | 25 | 13% |
Unknown | 73 | 37% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 54 | 27% |
Medicine and Dentistry | 18 | 9% |
Agricultural and Biological Sciences | 10 | 5% |
Unspecified | 7 | 4% |
Computer Science | 4 | 2% |
Other | 26 | 13% |
Unknown | 80 | 40% |