Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
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| Title: | Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. |
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| Authors: | Pagnamenta, Alistair T.1,2 (AUTHOR), Camps, Carme1,2 (AUTHOR), Giacopuzzi, Edoardo1,2,3 (AUTHOR), Taylor, John M.2,4 (AUTHOR), Hashim, Mona1,2 (AUTHOR), Calpena, Eduardo2,5 (AUTHOR), Kaisaki, Pamela J.1,2 (AUTHOR), Hashimoto, Akiko5 (AUTHOR), Yu, Jing1,2 (AUTHOR), Sanders, Edward5 (AUTHOR), Schwessinger, Ron5 (AUTHOR), Hughes, Jim R.5 (AUTHOR), Lunter, Gerton5,6 (AUTHOR), Dreau, Helene2,7 (AUTHOR), Ferla, Matteo1,2 (AUTHOR), Lange, Lukas1,2 (AUTHOR), Kesim, Yesim1,2 (AUTHOR), Ragoussis, Vassilis1,2 (AUTHOR), Vavoulis, Dimitrios V.1,2,7 (AUTHOR), Allroggen, Holger8 (AUTHOR) |
| Source: | Genome Medicine. 11/9/2023, Vol. 15 Issue 1, p1-25. 25p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 1756994X |
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| DOI: | 10.1186/s13073-023-01240-0 |
