A phenotype centric benchmark of variant prioritisation tools
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/s41525-018-0044-9.pdf
Reference70 articles.
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3. Lionel, A. C. et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet. Med. https://doi.org/10.1038/gim.2017.119 (2017).
4. Meienberg, J., Bruggmann, R., Oexle, K. & Matyas, G. Clinical sequencing: is WGS the better WES? Hum. Genet. 135, 359–362 (2016).
5. Stavropoulos, D. J. et al. Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genom. Med. 1, 15012 (2016).
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