Download Clinical Applications for Next-Generation Sequencing by Urszula Demkow, Rafal Ploski PDF

By Urszula Demkow, Rafal Ploski

Clinical purposes for subsequent new release Sequencing presents readers with an exceptional postgraduate source to profit concerning the translational use of NGS in medical environments.

Rooted in either scientific genetics and medical drugs, the booklet fills the distance among cutting-edge expertise and evidence-based perform, delivering an academic chance for clients to boost sufferer care by means of moving NGS to the desires of real-world patients.

The e-book builds an interface among genetic laboratory employees and scientific medical experts not to in basic terms enhance verbal exchange, but in addition develop cooperation. clients will locate priceless strategies they could use to construct a scientific framework for realizing the position of NGS checking out in either universal and infrequent ailments and stipulations, from prenatal care, like chromosomal abnormalities, as much as complex age difficulties like dementia.

  • Fills the distance among state of the art know-how and evidence-based practice
  • Provides a tutorial chance which advances sufferer care in the course of the move of NGS to real-world sufferer assessment
  • Promotes a pragmatic software that clinicians can practice on to sufferer care
  • Includes a scientific framework for realizing the position of NGS trying out in lots of universal and infrequent illnesses
  • Presents proof in regards to the very important position of NGS in present diagnostic thoughts

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Additional info for Clinical Applications for Next-Generation Sequencing

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Genome Med 2013;5:28. 1186/gm432. [26] Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164. 1093/nar/gkq603. [27] Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012;6:80–92. 19695. [28] 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, et al.

Within the context of discussing amplification procedures for NGS and SV detection, it is worth noting that there are significant differences between sequencing platforms and a careful consideration is advised when selecting between them [31,32]. The sequencing machine and amplification method determine read lengths and paired-end sequencing capabilities, which have an impact on downstream data processing [25]. Multiple methods of SV detection rely on information provided by paired-end sequencing.

We can either “learn” the various copy number values using training data or we can try to fit Gaussian mixture models to the distribution of segment log ratios. This generic analysis approach works best for data from WGS experiments, and several approaches have been published over the past years; they are presented in the section on software tools. STRUCTURAL VARIATION, NGS, CANCER, AND THE CLINIC NGS technologies are routinely applied in contemporary molecular research and have steadily been penetrating into clinical practice [25].

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