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Fluidigm plateform - Humpath.com - Human pathology

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Fluidigm plateform

Tuesday 12 June 2012

Targeted 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, S.J., Piskorz, A.M., Jimenez-Linan, M., Bentley, D., Hadfield, J., May, A.P., Caldas, C., Brenton, J.D., Rosenfeld, N. Science Translational Medicine May 31, 2012.

- Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proceedings of the National Academy of Sciences. Lohr, J.G., Golub, T.R., et al. February 17, 2012.

- Hollants,S., Redeker, E.J.W., Matthijs, G. January 31, 2012. Microfluidic Amplification as a Tool for Massive Parallel Sequencing of Familial Hypercholesterolemia Genes. The American Association for Clinical Chemistry

- 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

- Zernant, J., Schubert, C., Im, K.M., Burke, T., Brown, C.M., Fishman, G.A., Tsang, S.H., Gouras, P., Dean, M., Allikmets, R. September 12, 2011. Analysis of the ABCA4 gene by next-generation sequencing. IOVS Investigative Ophthalmology & Visual Science

- 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

- Bybee, S.M., Bracken-Grissom, H., Haynes, B.D., Hermansen, R.A., Byers, R.L., Clement, M.J., Udall, J.A., Wilcox, E.R., Crandall, K.A. October 13, 2011. Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics. Genome Biology and Evolution

- Etienne Paux, E., Sourdille, P., Mackay, I., Feuillet, C. October 1, 2011. Sequence-based marker development in wheat: Advances and applications to breeding. Biotechnology Advances

- Grossmann, V., Kohlman, A., Eder, C., Haferlach, C., Kern, W., Cross, N.C., Haferlach, T., Schnittger, S. February 22, 2011. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia

- Zhang, J., Chiodini, R., Badr, A., Zhang, G. January 18, 2011. The impact of next-generation sequencing on genomics. Journal of Genetics and Genomics

- 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