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dc.contributor.authorVodak, Danielen_US
dc.contributor.authorLorenz, Susanneen_US
dc.contributor.authorNakken, Sigveen_US
dc.contributor.authorAasheim, Lars Birgeren_US
dc.contributor.authorHolte, Haralden_US
dc.contributor.authorBai, Baoyanen_US
dc.contributor.authorMyklebost, Olaen_US
dc.contributor.authorMeza, Leonardo Zepedaen_US
dc.contributor.authorHovig, Eivinden_US
dc.PublishedVodak D, Lorenz S, Nakken S, Aasheim LB, Holte H, Bai B, Myklebost O, Meza ZL, Hovig E. Sample-Index Misassignment Impacts Tumour Exome Sequencing. Scientific Reports. 2018;8:5307eng
dc.description.abstractSample pooling enabled by dedicated indexes is a common strategy for cost-effective and robust high-throughput sequencing. Index misassignment leading to mutual contamination between pooled samples has however been described as a general problem of the latest Illumina sequencing instruments utilizing exclusion amplification. Using real-life data from multiple tumour sequencing projects, we demonstrate that index misassignment can induce artefactual variant calls closely resembling true, high-quality somatic variants. These artefactual calls potentially impact cancer applications utilizing low allelic frequencies, such as in clonal analysis of tumours. We discuss the available countermeasures with an emphasis on improved library indexing methods, and provide software that can assist in the identification of variants that may be consequences of index misassignment.en_US
dc.publisherSpringer Natureeng
dc.rightsAttribution CC BYeng
dc.titleSample-Index Misassignment Impacts Tumour Exome Sequencingen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2018 The Author(s)
dc.source.journalScientific Reports
dc.relation.projectNorges forskningsråd: 218241
dc.relation.projectNorges forskningsråd: 221580

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