التفاصيل البيبلوغرافية
| العنوان: |
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples |
| المؤلفون: |
Bailey, Matthew H., Perry, MD, Puiggros, M, Raine, KM, Rheinbay, E, Royo, R, Sahinalp, SC, Saksena, G, Sarrafi, I, Schlesner, M, Simpson, JT, Stebbings, L, Stewart, C, Stobbe, MD, Teague, JW, Tiao, G, Torrents, D, Wala, JA, Wang, J, Wang, W, Waszak, SM, Weischenfeldt, J, Wendl, MC, Werner, J, Wu, Z, Xue, H, Yakneen, S, Yamaguchi, TN, Ye, K, Yellapantula, VD, Yung, CK, Zhang, J, Pedersen, JS, Puiggròs, M, Wendl, M, Ellrot, K, Wheeler, DA, Getz, G, Gerstein, MB, Ding, L, Aaltonen, LA, Abascal, F, Abeshouse, A, Aburatani, H, Adams, DJ, Agrawal, N, Ahn, KS, Ahn, S-M, Aikata, H, Akbani, R, Akdemir, KC, Al-Ahmadie, H, Al-Sedairy, ST, Al-Shahrour, F, Alawi, M, Albert, M, Aldape, K, Alexandrov, LB, Ally, A, Alsop, K, Alvarez, EG, Amary, F, Amin, SB, Aminou, B, Ammerpohl, O, Anderson, MJ, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Meyerson, William U., Bailey, MH, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ellrott, K, Fan, Y, Foltz, S, Dursi, Lewis Jonathan, Hale, W, Haussler, D, Hess, JM, Hutter, CM, Kandoth, C, Kasaian, K, Kasapi, M, Larson, D, Leshchiner, I, Wang, Liang-Bo, Letaw, J, Ma, S, McLellan, MD, Men, Y, Mills, GB, Niu, B, Peto, M, Radenbaugh, A, Reynolds, SM, Dong, Guanlan, Sofia, H, Struck, AJ, Stuart, JM, Weinstein, JN, Wong, CK, Xi, L, Liang, Wen-Wei, Bieg, M, Boutros, PC, Buchhalter, I, Butler, AP, Chen, K, Chong, Z, Drechsel, O, Weerasinghe, Amila, Jonathan Dursi, L, Eils, R, Espiritu, SMG, Fulton, RS, Gao, S, Gelpi, JLL, Gonzalez, S, Li, Shantao, Gut, IG, Hach, F, Heinold, MC, Hinton, J, Hu, T, Huang, V, Huang, Y, Hutter, B, Jones, DR, Kelso, Sean, Jung, J, Jäger, N, Kim, HL, Kleinheinz, K, Kumar, S, Kumar, Y, Lalansingh, CM, Letunic, I, Livitz, D, Ma, EZ, Maruvka, YE, Mashl, RJ, Menzies, A, Milovanovic, A, Nielsen, MM, Ossowski, S, Paramasivam, N, Scarlett, Christopher J. |
| المساهمون: |
The University of Newcastle. Faculty of Health & Medicine, Faculty of Health and Medicine |
| بيانات النشر: |
Nature |
| سنة النشر: |
2020 |
| المجموعة: |
NOVA: The University of Newcastle Research Online (Australia) |
| مصطلحات موضوعية: |
cancer genomics, communication and replication, comparative genomics, genetic databases, SDG 3, Sustainable Development Goals |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| تدمد: |
2041-1723 |
| العلاقة: |
Nature Communications Vol. 11, Issue 1, no. 4748; http://hdl.handle.net/1959.13/1455622Test; uon:45113 |
| الإتاحة: |
http://hdl.handle.net/1959.13/1455622Test |
| حقوق: |
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/4.0Test/. |
| رقم الانضمام: |
edsbas.F126829C |
| قاعدة البيانات: |
BASE |
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