ISSN: 2041-6792

Clinical Investigation

Next Generation Sequencing Applications.

 NGS techniques have been used for high-throughput whole viral genome sequencing, such as sequencing of new influenza viruses, for detection of viral genome variability and evolution within the host, such as investigation of human immunodeficiency virus and human hepatitis C virus quasispecies, and monitoring. NGS can be used to sequence entire genomes or constrained to specific areas of interest, including all 22 000 coding genes (a whole exome) or small numbers of individual genes. Example of next generation sequencing (NGS) raw data-BRAF V600E mutation in melanoma. To perform Sanger Sequencing, you add your primers to a solution containing the genetic information to be sequenced, then divide up the solution into four PCR reactions. Each reaction contains a with dNTP mix with one of the four nucleotides substituted with a ddNTP (A, T, G, and C ddNTP groups). Advantages of NGS include: Higher sensitivity to detect low-frequency variants. Faster turnaround time for high sample volumes. Comprehensive genomic coverage. Next generation sequencing (NGS) strategies for the genetic testing of myopathies. ... This brings the genetic testing procedure to a higher level of complexity. The positive aspect is the ease to cope with the complex diagnosis of genetically heterogeneous disorders and to identify novel disease genes.  

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