By Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)
Рассказывается, главным образом, о новых методах клинической диагностики. Contents subsequent iteration Sequencing: Chemistry, expertise and purposes, by way of P. Hui program of subsequent new release Sequencing to Molecular prognosis of Inherited illnesses, via W. Zhang, H. Cui, L.-J.C. Wong scientific functions of the most recent Molecular Diagnostics in Noninvasive Prenatal prognosis, by means of K.C.A. Chan The position of Protein Structural research within the subsequent iteration Sequencing period, through W.W. Yue, D.S. Froese, P.E. Brennan rising functions of Single-Cell Diagnostics, through M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput scientific Biomarker Assays: a number of response tracking, by means 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 illnesses and Lysosomal garage illnesses, through W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu
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Extra resources for Chemical Diagnostics: From Bench to Bedside
Each of these steps requires quality control and clinical validation. Depending on the enrichment methods, sequencing chemistry and platforms, as well as analytical tools, individual laboratories may institute different standards and procedures. Therefore, some kind of consensus on standard setting is required. Review of the published articles revealed that the majority of laboratories used a limited number of pre-selected, known positive samples as controls for validation. For example, 5 control samples were from MFS  and only 12 known positive controls were used for CDG validation .
To bring this new research technology (a series of new technology, in fact) to the standard required for medical application needs stringent validation. 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.
Most autosomal recessive disorders manifest in early childhood with severe disease course and a poor outcome [76, 77]. Preconception screening, coupled with genetic counseling of carriers has helped tremendously in the reduction of the incidence of severe recessive diseases. Thus, an affordable comprehensive preconception screening would be desirable for general population if the assay includes actionable, highly penetrant, and severe recessive mutations. The recently developed target gene capture and MPS approach has made this type of screening assay possible.
Chemical Diagnostics: From Bench to Bedside by Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)