Detection of aberrant gene expression events in RNA sequencing data
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology
Link
http://www.nature.com/articles/s41596-020-00462-5.pdf
Reference64 articles.
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4. 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. 20, 435–443 (2018).
5. Chong, J. X. et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet. 97, 199–215 (2015).
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