References
- Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature 2009;458:719-24
- Winnick E. Illumina launches two new platforms at JP Morgan Conference; claims $1,000 genome. GenomeWeb 2014. Available from: www.genomeweb.com/sequencing/illumina-launches-two-new-platforms-jp-morgan-conference-claims-1000-genome [Last accessed 27 January 2014]
- Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 2013;14:295-300
- Park JY, Kricka LJ, Fortina P. Next-generation sequencing in the clinic. Nat Biotechnol 2013;31:990-2
- Strom SP, Lee H, Das K, et al. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostics laboratory. Genet Med 2014. [Epub ahead to print]
- Vogelstein B, Papadopoulos N, Velculescu VE, et al. Cancer genome landscapes. Science 2013;339:1546-58
- Vignot S, Frampton GM, Soria JC, et al. Next-generation sequencing. reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer. J Clin Oncol 2013;31:2167-72
- Kosmidou V, Oikonomou E, Vlassi M, et al. Tumor heterogeneity revealed by KRAS, BRAF, and PIK3CA pyrosequencing: KRAS and PIK3CA intratumour mutation profile differences and their therapeutic implications. Hum Mutat 2014;35(3):329-40
- Urtishak S, Alpaugh RK, Weiner LM, Swaby RF. Clinical utility of circulating tumor cells: a role for monitoring response to therapy and drug development. Biomark Med 2008;2(2):137-45
- Dawson SJ, Rosenfeld N, Caldas C, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 2013;368:1199-209
- The Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2013;487:330-7
- Harismendy O, Ng PC, Strausberg RL, et al. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol 2009;10:R32
- Ng PC, Henikoff S, SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-14
- Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9
- Lawrence MS, Stojanov P, Polak P, et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 2013;499:214-18
- Gonzalez-Perez A, Mustonen V, Reva B, et al. Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods 2013;10:723-9
- Hodis E, Watson IR, Kryukov GV, et al. A landscape of driver mutations in melanoma. Cell 2012;150:251-63
- Lo YM, Zhang J, Leung TN, et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64:218-24