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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
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dc.contributor.author | PCAWG Consortium | |
dc.contributor.author | MC3 Working Group | |
dc.contributor.author | PCAWG novel somatic mutation calling methods working group | |
dc.contributor.author | Bailey, Matthew H. | |
dc.contributor.author | Meyerson, William U. | |
dc.contributor.author | Dursi, Lewis Jonathan | |
dc.contributor.author | Wang, Liang-Bo | |
dc.contributor.author | Dong, Guanlan | |
dc.contributor.author | Liang, Wen-Wei | |
dc.contributor.author | Weerasinghe, Amila | |
dc.contributor.author | Li, Shantao | |
dc.contributor.author | Li, Yize | |
dc.contributor.author | Kelso, Sean | |
dc.contributor.author | Saksena, Gordon | |
dc.contributor.author | Ellrott, Kyle | |
dc.contributor.author | Wendl, Michael C. | |
dc.contributor.author | Wheeler, David A. | |
dc.contributor.author | Getz, Gad | |
dc.contributor.author | Simpson, Jared T. | |
dc.contributor.author | Gerstein, Mark B. | |
dc.contributor.author | Ding, Li | |
dc.date.accessioned | 2020-12-16T16:30:08Z | |
dc.date.available | 2020-12-16T16:30:08Z | |
dc.date.issued | 2020-09-21 | |
dc.identifier | 271692684 | |
dc.identifier | 24414627-bd4d-4ecf-a6b9-db4bf8f2cea7 | |
dc.identifier | 85079069163 | |
dc.identifier.citation | PCAWG Consortium , MC3 Working Group , PCAWG novel somatic mutation calling methods working group , Bailey , M H , Meyerson , W U , Dursi , L J , Wang , L-B , Dong , G , Liang , W-W , Weerasinghe , A , Li , S , Li , Y , Kelso , S , Saksena , G , Ellrott , K , Wendl , M C , Wheeler , D A , Getz , G , Simpson , J T , Gerstein , M B & Ding , L 2020 , ' Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ' , Nature Communications , vol. 11 , 4748 . https://doi.org/10.1038/s41467-020-18151-y | en |
dc.identifier.issn | 2041-1723 | |
dc.identifier.other | RIS: urn:EED5606E37268DD04AF06D3CFADE8CD6 | |
dc.identifier.other | RIS: Bailey2020 | |
dc.identifier.other | ORCID: /0000-0002-7876-7338/work/85568435 | |
dc.identifier.uri | https://hdl.handle.net/10023/21162 | |
dc.description.abstract | The 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. | |
dc.format.extent | 27 | |
dc.format.extent | 2534133 | |
dc.language.iso | eng | |
dc.relation.ispartof | Nature Communications | en |
dc.subject | QH426 Genetics | en |
dc.subject | RC0254 Neoplasms. Tumors. Oncology (including Cancer) | en |
dc.subject | DAS | en |
dc.subject | SDG 3 - Good Health and Well-being | en |
dc.subject.lcc | QH426 | en |
dc.subject.lcc | RC0254 | en |
dc.title | Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples | en |
dc.type | Journal article | en |
dc.contributor.institution | University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis | en |
dc.contributor.institution | University of St Andrews. Cellular Medicine Division | en |
dc.contributor.institution | University of St Andrews. Statistics | en |
dc.contributor.institution | University of St Andrews. School of Medicine | en |
dc.identifier.doi | https://doi.org/10.1038/s41467-020-18151-y | |
dc.description.status | Peer reviewed | en |
dc.identifier.url | https://www.nature.com/articles/s41467-020-20128-w | en |
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