References
Automation of diagnostic genetic testing: Mutation detection by cyclic minisequencing. Alagrund K, Orpana AK. Scand J Clin Lab Invest. 2013 Nov 25. PMID: #24274319#
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DNA study
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cyclic minisequencing
7 January 2014 -
clinical NGS
7 January 2014References
Voelkerding, K.V., Dames, S., and Durtschi, J.D. September 5, 2010. Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy. Journal of Molecular Diagnostics -
amplicon base sequencing
7 January 2014Reference
Schlipf, N.A., Schule, R., Klimpe, S., Karle, K.N., Synofzik, M., Schicks, J., Riessa, O., Schols, L., Bauer, P. June 13, 2011. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clinical Genetics -
targeted enrichment
7 January 2014Reference
Mertes, F., ElSharawy, A., Sauer, S., an Helvoort, J., van der Zaag, P.J., Franke, A., Nilsson, M., Lehrach H., Brookes, A.J. November 26, 2011. Targeted enrichment of genomic DNA regions for next-generation sequencing. Oxford Journals, Briefings in Functional Genomics -
NGS from cyrology specimens
7 January 2014NGS from FNA
References
Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics. Kanagal-Shamanna R, Portier BP, Singh RR, Routbort MJ, Aldape KD, Handal BA, Rahimi H, Reddy NG, Barkoh BA, Mishra BM, Paladugu AV, Manekia JH, Kalhor N, Chowdhuri SR, Staerkel GA, Medeiros LJ, Luthra R, Patel KP. Mod Pathol. 2013 Aug 2. doi:10.1038/modpathol.2013.122 . PMID: (...) -
bench-top next-generation DNA sequencer
16 March 2013bench-top next-generation DNA sequencers; bench-top next-generation DNA sequencing
References
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A. Hum Mutat. 2012 Jan;33(1):281-9. doi: 10.1002/humu.21602 . PMID: #21898659# [Free] -
mate pair sequencing
12 March 2013Open references
Mate pair sequencing of whole-genome-amplified DNA following laser capture microdissection of prostate cancer. Murphy SJ, Cheville JC, Zarei S, Johnson SH, Sikkink RA, Kosari F, Feldman AL, Eckloff BW, Karnes RJ, Vasmatzis G. DNA Res. 2012 Oct;19(5):395-406. doi: 10.1093/dnares/dss021 . PMID: #22991452# [Free]
Mate pair sequencing of whole-genome-amplified DNA following laser capture microdissection of prostate cancer. Murphy SJ, Cheville JC, Zarei S, Johnson SH, Sikkink (...) -
whole-oncogenome sequencing
17 October 2012Presentations
Comparison of primary and metastatic acral melanoma by whole genome sequencing. By Samra Turaljic at the 2012 Biopathology Symposium. -
Fluidigm plateform
12 June 2012Targeted sequencing
Fanconi’s anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing. Tan IB, Cutcutache I, Zang ZJ, Iqbal J, Yap SF, Hwang W, Lim WT, Teh BT, Rozen S, Tan EH, Tan P. J Clin Oncol. 2011 Jul 10;29(20):e591-4. PMID: #21519011#
Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing. Forshew, T., Murtaza, M., Parkinson, C., Gale, D., Tsui, D.W.Y., Kaper, F., Dawson, (...) -
direct-to-consumer genetic test
28 February 2012direct-to-consumer genetic tests; DTC genetic test
2007 has been marked by the emergence of several companies, such as 23andMe, deCODEME, Navigenics and Knome, offering tests using genome-wide technology direct to consumers over the internet.
On the basis of the published research findings of GWAS and other studies, these companies will calculate an individual’s risk to a number of common diseases, without the necessity of going through a medical practitioner.
One of the significant (...)
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