Download e-book for kindle: Next Generation Sequencing Technologies in Medical Genetics by C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping

By C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang

ISBN-10: 1461490316

ISBN-13: 9781461490319

This e-book introduces readers to subsequent new release Sequencing purposes in scientific genetics. The authors speak about the direct program of next-generation sequencing to medication, particularly, laboratory drugs or molecular diagnostics. the 1st a part of the ebook comprises chapters on sanger sequencing, NGS applied sciences, targeted-amplification and catch, and exome sequencing. the second one a part of the publication makes a speciality of genetic problems diagnoses via NGS, prenatal prognosis, muscular dystrophies, mitochondrial issues analysis, and demanding situations in molecular prognosis. contemporary advancements and power destiny tendencies in NGS sequencing functions are highlighted, to boot.

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Proc Natl Acad Sci U S A 108:4218–4223. 1 Introduction Next-generation–sequencing (NGS) technologies, by sequencing hundreds of thousands to millions of DNA templates in parallel, resulted in higher throughput (Gb scale) and lowered sequencing cost (Mardis 2008; Shendure and Ji 2008). This has permitted the definition of the entire genome as well as the differences that exist between them. The ultimate goal is to routinely perform whole-genome sequencing to allow us to gain a deeper understanding of genetic variation and to define its role in phenotypic variation and the pathogenesis of complex traits (Mamanova et al.

Established a solution capture (Agilent SureSelect, SS) and Genome Analyzer IIx (Illumina) approach to examine a 1,177 Mb region of interest against 254 known and candidate retinal disease genes (Audo et al. 2012). Their patients 40 4 Application of Next-Generation–Sequencing to the Diagnosis… had phenotypes that included retinitis pigmentosa, congenital stationary night blindness, Best disease, early-onset cone dystrophy, and Stargardt disease. Interestingly, three known and five novel mutations were identified in NR2E3, PRPF3, EYS, PRPF8, CRB1, TRPM1, and CACNA1F.

Heterozygous and homozygous disease-associated mutations were correctly detected in all samples. 10 Summary As NGS technologies develop, we will have the ability to generate large amounts of sequence data at lower cost and with less effort. This will eventually lead to improved diagnosis of heterogeneous disorders. In the past few years, the translation of NGS to the clinical realm has been steadily increasing. NGS technologies have been applied to the examination of a large number of genes in numerous genetically heterogeneous disorders, as well as genes from one common pathway.

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Next Generation Sequencing Technologies in Medical Genetics by C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang

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