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dc.contributor.authorBailey, Matthew H.
dc.contributor.authorMeyerson, William U.
dc.contributor.authorDursi, L. Jonathan
dc.contributor.authorWang, Liang-Bo
dc.contributor.authorDong, Guanlan
dc.contributor.authorLiang, Wen-Wei
dc.contributor.authorWeerasinghe, Amila
dc.contributor.authorLi, Shantao
dc.contributor.authorLi, Yize
dc.contributor.authorKelso, Sean
dc.contributor.authorAure, Miriam Ragle
dc.contributor.authorBørresen-Dale, Anne-Lise
dc.contributor.authorLangerød, Anita
dc.contributor.authorBaumhoer, Daniel
dc.contributor.authorBjerkehagen, Bodil
dc.contributor.authorGarred, Øystein
dc.contributor.authorLingjærde, Ole Christian
dc.contributor.authorSauer, Torill
dc.contributor.authorZaikova, Olga
dc.contributor.authorMyklebost, Ola
dc.contributor.authorKnappskog, Stian
dc.contributor.authorVazquez, Miguel
dc.contributor.authorAkbani, Rehan
dc.contributor.authorAnur, Pavana
dc.contributor.authorBuchanan, Alex
dc.contributor.authorChiotti, Kami
dc.contributor.authorCovington, Kyle
dc.contributor.authorCreason, Allison
dc.contributor.authorNiu, Beifang
dc.contributor.authorBieg, Matthias
dc.contributor.authorBoutros, Paul C.
dc.contributor.authorBuchhalter, Ivo
dc.contributor.authorButler, Adam P.
dc.contributor.authorChen, Ken
dc.contributor.authorChong, Zechen
dc.contributor.authorDrechsel, Oliver
dc.contributor.authorAaltonen, Lauri
dc.contributor.authorAbascal, Federico
dc.contributor.authorAbeshouse, Adam
dc.contributor.authorAburatani, H
dc.contributor.authorAdams, David J.
dc.contributor.authorVan Loo, Peter
dc.contributor.authorSaksena, Gordon
dc.contributor.authorEllrott, Kyle
dc.contributor.authorWendl, Michael C.
dc.contributor.authorWheeler, David A.
dc.contributor.authorGetz, Gad
dc.contributor.authorSimpson, Jared T.
dc.contributor.authorGerstein, Mark B.
dc.contributor.authorDing, Li
dc.date.accessioned2021-02-24T08:44:28Z
dc.date.available2021-02-24T08:44:28Z
dc.date.created2021-02-22T14:32:01Z
dc.date.issued2020
dc.identifier.citationNature Communications. 2020, 11, 1-27.en_US
dc.identifier.issn2041-1723
dc.identifier.urihttps://hdl.handle.net/11250/2729972
dc.description.abstractThe Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.en_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleRetrospective evaluation of whole exome and genome mutation calls in 746 cancer samplesen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.description.versionpublishedVersionen_US
dc.source.pagenumber1-27en_US
dc.source.volume11en_US
dc.source.journalNature Communicationsen_US
dc.identifier.doi10.1038/s41467-020-18151-y
dc.identifier.cristin1892392
dc.description.localcodeOpen Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.en_US
dc.source.articlenumber4748en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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