Reference standards for next-generation sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg.2017.44.pdf
Reference123 articles.
1. Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369, 1502–1511 (2013).
2. Byron, S. A., Van Keuren-Jensen, K. R., Engelthaler, D. M., Carpten, J. D. & Craig, D. W. Translating RNA sequencing into clinical diagnostics: opportunities and challenges. Nat. Rev. Genet. 17, 257–271 (2016).
3. Lefterova, M. I., Suarez, C. J., Banaei, N. & Pinsky, B. A. Next-generation sequencing for infectious disease diagnosis and management. J. Mol. Diagn. 17, 623–634 (2015).
4. Goldfeder, R. L. et al. Medical implications of technical accuracy in genome sequencing. Genome Med. 8, 24 (2016). This study investigated the location of clinically relevant variants in regions of the human genome that are refractory to reliable genotyping with NGS owing to the presence of extreme GC content or repetitive sequences.
5. van Dijk, E. L., Jaszczyszyn, Y. & Thermes, C. Library preparation methods for next-generation sequencing: tone down the bias. Exp. Cell Res. 322, 12–20 (2014).
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