Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/npjgenmed201619.pdf
Reference24 articles.
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2. Biesecker, L. G. Exome sequencing makes medical genomics a reality. Nat. Genet. 42, 13–14.
3. Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A. & Jabado, N. What can exome sequencing do for you? J. Med. Genet. 48, 580–589 (2011).
4. Schreiber, M., Dorschner, M. & Tsuang, D. Next-generation sequencing in schizophrenia and other neuropsychiatric disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 162B, 671–678 (2013).
5. Dias-Santagata, D. et al. Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine. EMBO Mol. Med. 2, 146–158 (2010).
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