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Next generation sequencing technologies and applications for human Genetic History and Forensics
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
2011 (English)In: Investigative Genetics, ISSN 2041-2223, E-ISSN 2041-2223, Vol. 2, no 1, 23- p.Article in journal (Refereed) Published
Abstract [en]

The rapid advances in the development of sequencing technologies in recent years enable 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.

Place, publisher, year, edition, pages
2011. Vol. 2, no 1, 23- p.
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-162972DOI: 10.1186/2041-2223-2-23PubMedID: 22115430OAI: oai:DiVA.org:uu-162972DiVA: diva2:462202
Available from: 2011-12-06 Created: 2011-12-06 Last updated: 2017-12-08Bibliographically approved

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Berglund, Eva CSyvänen, Ann-Christine

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