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Next-generation sequencing technologies and applications for human genetic history and forensics

Eva C Berglund, Anna Kiialainen and Ann-Christine Syvänen*

Author Affiliations

Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden

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Investigative Genetics 2011, 2:23  doi:10.1186/2041-2223-2-23

Published: 24 November 2011


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.