title: Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.
abstract: With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset of an ethnically matched population. The exome-wide genotyping accuracy is estimated from the distance to this reference set, and does not require any further knowledge about data generation or the bioinformatics involved. The distances of our metric are visualized by non-metric multidimensional scaling and serve as an intuitive, standardizable score for the quality assessment of exome data.
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Verena
authors.initials: V
authors.lastname: Heinrich
authors.affiliation: Smart Algos, Retzbacher Weg 83, 13189 Berlin, Germany.
authors.forename: Tom
authors.initials: T
authors.lastname: Kamphans
authors.affiliation: Department of Mathematics, Humboldt-University Berlin, Unter den Linden 6, 10099 Berlin, Germany.
authors.forename: Jens
authors.initials: J
authors.lastname: Stange
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Dmitri
authors.initials: D
authors.lastname: Parkhomchuk
authors.affiliation: Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany ; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany.
authors.forename: Jochen
authors.initials: J
authors.lastname: Hecht
authors.affiliation: Department of Mathematics, Humboldt-University Berlin, Unter den Linden 6, 10099 Berlin, Germany.
authors.forename: Thorsten
authors.initials: T
authors.lastname: Dickhaus
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany ; Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Krawitz
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