Download PDF by Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.): Chemical Diagnostics: From Bench to Bedside

By Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)

ISBN-10: 364239941X

ISBN-13: 9783642399411

ISBN-10: 3642399428

ISBN-13: 9783642399428

Рассказывается, главным образом, о новых методах клинической диагностики. Contents subsequent new release Sequencing: Chemistry, know-how and purposes, through P. Hui program of subsequent new release Sequencing to Molecular analysis of Inherited illnesses, via W. Zhang, H. Cui, L.-J.C. Wong medical functions of the most recent Molecular Diagnostics in Noninvasive Prenatal prognosis, by way of K.C.A. Chan The position of Protein Structural research within the subsequent new release Sequencing period, by means of W.W. Yue, D.S. Froese, P.E. Brennan rising purposes of Single-Cell Diagnostics, by way of M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput scientific Biomarker Assays: a number of response tracking, by way of C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in medical Diagnostic functions, by means of E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon software of Mass Spectrometry in baby Screening: approximately either Small Molecular ailments and Lysosomal garage ailments, through W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu

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Zhang et al. 48. Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW et al (2011) Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med 13(11):921–932 49. Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE (2011) Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet 48(3):145–151 50. Tang S, Huang T (2010) Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

J Inherit Metab Dis 27(3):349–362 40 W. Zhang et al. 5. Scharfe C, Lu HH-S, Neuenburg JK, Allen EA, Li G-C, Klopstock T et al (2009) Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol 5(4):e1000374 6. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP et al (2007) The diploid genome sequence of an individual human. PLoS Biol 5(10):e254 7. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A et al (2008) The complete genome of an individual by massively parallel DNA sequencing.

In this section we will review the potential shortcomings of the current MPS methodologies and how they will impact on the application to clinical settings. 1 PCR-Based Target Amplification Has Intrinsic Drawbacks This PCR-based amplification followed by MPS encounters some potential drawbacks, which usually appear to produce uneven coverage of the target regions. Poor amplification of some targets may be due to high GC content or particular DNA structures. The presence of SNPs at the primer sites may also cause allelic dropout.

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Chemical Diagnostics: From Bench to Bedside by Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)

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