caa a22 4500 445860928 CHVBK 20180317145442.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s00439-011-0971-3 doi (NATIONALLICENCE)springer-10.1007/s00439-011-0971-3 Technology-specific error signatures in the 1000 Genomes Project data [Elektronische Daten] [Michael Nothnagel, Alexander Herrmann, Andreas Wolf, Stefan Schreiber, Matthias Platzer, Reiner Siebert, Michael Krawczak, Jochen Hampe] Next-generation sequencing (NGS) will likely facilitate a better understanding of the causes and consequences of human genetic variability. In this context, the validity of NGS-inferred single-nucleotide variants (SNVs) is of paramount importance. We therefore developed a statistical framework to assess the fidelity of three common NGS platforms. Using aligned DNA sequence data from two completely sequenced HapMap samples as included in the 1000 Genomes Project, we unraveled remarkably different error profiles for the three platforms. Compared to confirmed HapMap variants, newly identified SNVs included a substantial proportion of false positives (3-17%). Consensus calling by more than one platform yielded significantly lower error rates (1-4%). This implies that the use of multiple NGS platforms may be more cost-efficient than relying upon a single technology alone, particularly in physically localized sequencing experiments that rely upon small error rates. Our study thus highlights that different NGS platforms suit different practical applications differently well, and that NGS-based studies require stringent data quality control for their results to be valid. Springer-Verlag, 2011 Nothnagel Michael Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut Herrmann Alexander Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut Wolf Andreas Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut Schreiber Stefan Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut Platzer Matthias Genome Analysis, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstraße 11, 07745, Jena, Germany aut Siebert Reiner Institute of Human Genetics, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schwanenweg 24, 24105, Kiel, Germany aut Krawczak Michael Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut Hampe Jochen Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut Human Genetics Springer-Verlag 130/4(2011-10-01), 505-516 0340-6717 130:4<505 2011 130 439 https://doi.org/10.1007/s00439-011-0971-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-0971-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nothnagel Michael Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Herrmann Alexander Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Wolf Andreas Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Schreiber Stefan Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Platzer Matthias Genome Analysis, Leibniz Institute for Age Research, Fritz Lipmann Institute, Beutenbergstraße 11, 07745, Jena, Germany aut NATIONALLICENCE 700 1- Siebert Reiner Institute of Human Genetics, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schwanenweg 24, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Krawczak Michael Institute of Medical Informatics and Statistics, Christian-Albrechts University, Brunswiker Str. 10, 24105, Kiel, Germany aut NATIONALLICENCE 700 1- Hampe Jochen Department of Internal Medicine I, University Hospital Schleswig-Holstein, Christian-Albrechts University, Campus Kiel, Schittenhelmstraße 12, 24105, Kiel, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/4(2011-10-01), 505-516 0340-6717 130:4<505 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer