Next-generation sequencing technologies and applications for human genetic history and forensics
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Rapid advances in the development of sequencing technologies in recent years have enabled an increasing number of applications in biology and medicine. Here, we review key technical aspects of the preparation of DNA templates for sequencing, the biochemical reaction principles and assay formats underlying next-generation sequencing systems, methods for imaging and base calling, quality control, and bioinformatic approaches for sequence alignment, variant calling and assembly. We also discuss some of the most important advances that the new sequencing technologies have brought to the fields of human population genetics, human genetic history and forensic genetics. Determining the DNA sequence is the most comprehensive way of obtaining information about the genome of any living organism. For decades, Sanger sequencing [ 1 ] using fluorescently labeled terminating nucleotides and electrophoresis has been the gold standard sequencing technology. Sanger sequencing made an early impact in the field of microbial genomics, with the first complete bacterial genome, Haemophilus influenzae , sequenced in [ 2 ].
Skip to search form Skip to main content. Next generation sequencing: chemistry, technology and applications. The latter aspect will enable the application of genomic knowledge into clinical practice in this and next decades and will profoundly change the diagnosis, prognosis and treatment of many human diseases. It will further demand both philosophical and medical curriculum reforms in the training of our future physicians. View on PubMed. Alternate Sources. Save to Library.