By Pei Hui (auth.), Nelson L.S. Tang, Terence Poon (eds.)
Рассказывается, главным образом, о новых методах клинической диагностики. Contents subsequent new release Sequencing: Chemistry, know-how and purposes, by way of P. Hui software of subsequent new release Sequencing to Molecular prognosis of Inherited illnesses, through W. Zhang, H. Cui, L.-J.C. Wong scientific purposes of the newest Molecular Diagnostics in Noninvasive Prenatal analysis, through K.C.A. Chan The position of Protein Structural research within the subsequent new release Sequencing period, by way of W.W. Yue, D.S. Froese, P.E. Brennan rising purposes of Single-Cell Diagnostics, via M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput medical 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 purposes, by means of E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon software of Mass Spectrometry in infant Screening: approximately either Small Molecular illnesses and Lysosomal garage illnesses, by means of W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu
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Extra info for Chemical Diagnostics: From Bench to Bedside
In the study carried out by Schlipf and coworkers, 2 genes, CYP7B1 (SPG5) and SPG7, that are involved in the autosomal recessive form of HSP, were evaluated in 187 patients using MPS . Target gene regions were enriched by an array based microfluidic chip amplification method (Fluidigm) followed by nextgeneration pyro-sequencing using the Roche (454) Genome Sequencer FLX system. Results from two independent runs showed that 80% of the exons were covered at more than 20X. The remaining poorly covered regions were analyzed by Sanger sequencing separately.
Their results showed that more than 94% of the targeted regions were sequenced at a coverage of about 45X for the nuclear genes. Two known mutations in the positive controls were identified correctly. The coverage depth is approximately 4,000X for mtDNA . In this study about 5% of the target regions were not covered, and about 6–10% of the variants identified were novel, which required Sanger confirmation. The authors commented that the sample preparation step was tedious, but the entire procedure, after careful validation and improvement, was likely to be readily adapted for clinical application.
PCR products were pooled and subjected to ABI SOLiD library preparation and sequencing by ligation . Twelve samples from patients with a known diagnosis of CDG were sequenced for validation using the methods described above. The results showed that about 26–32% of the total variant calls appear to depend on the target enrichment methods. A total of 455 and 616 variants were called by RD and FD methods, respectively. After filtering the data to eliminate the low coverage and low quality calls, 85% and 94% of the unique variants called by the RD and FD, respectively, were likely false positives.