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A practical framewo...
A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies
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- Degasperi, Andrea (author)
- Addenbrooke's Hospital,Wellcome Trust Sanger Institute
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- Amarante, Tauanne Dias (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Czarnecki, Jan (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Shooter, Scott (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Zou, Xueqing (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Glodzik, Dominik (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Forskningsgrupp Lungcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Research Group Lung Cancer,Lund University Research Groups,Wellcome Trust Sanger Institute,Memorial Sloan-Kettering Cancer Center
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- Morganella, Sandro (author)
- Wellcome Trust Sanger Institute
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- Nanda, Arjun S. (author)
- Addenbrooke's Hospital
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- Badja, Cherif (author)
- Addenbrooke's Hospital,Wellcome Trust Sanger Institute
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- Koh, Gene (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Momen, Sophie E. (author)
- Addenbrooke's Hospital
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- Georgakopoulos-Soares, Ilias (author)
- Wellcome Trust Sanger Institute
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Dias, João M.L. (author)
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- Young, Jamie (author)
- Addenbrooke's Hospital,Wellcome Trust Sanger Institute
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- Memari, Yasin (author)
- Addenbrooke's Hospital
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- Davies, Helen (author)
- Wellcome Trust Sanger Institute,Addenbrooke's Hospital
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- Nik-Zainal, Serena (author)
- Addenbrooke's Hospital,Wellcome Trust Sanger Institute
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(creator_code:org_t)
- 2020-02-17
- 2020
- English 15 s.
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In: Nature Cancer. - : Springer Science and Business Media LLC. - 2662-1347. ; 1:2, s. 249-263
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Abstract
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- Mutational signatures are patterns of mutations that arise during tumorigenesis. We present an enhanced, practical framework for mutational signature analyses. Applying these methods to 3,107 whole-genome-sequenced (WGS) primary cancers of 21 organs reveals known signatures and nine previously undescribed rearrangement signatures. We highlight interorgan variability of signatures and present a way of visualizing that diversity, reinforcing our findings in an independent analysis of 3,096 WGS metastatic cancers. Signatures with a high level of genomic instability are dependent on TP53 dysregulation. We illustrate how uncertainty in mutational signature identification and assignment to samples affects tumor classification, reinforcing that using multiple orthogonal mutational signature data is not only beneficial, but is also essential for accurate tumor stratification. Finally, we present a reference web-based tool for cancer and experimentally generated mutational signatures, called Signal (https://signal.mutationalsignatures.com), that also supports performing mutational signature analyses.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Degasperi, Andre ...
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Amarante, Tauann ...
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Czarnecki, Jan
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Shooter, Scott
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Zou, Xueqing
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Glodzik, Dominik
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show more...
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Morganella, Sand ...
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Nanda, Arjun S.
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Badja, Cherif
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Koh, Gene
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Momen, Sophie E.
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Georgakopoulos-S ...
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Dias, João M.L.
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Young, Jamie
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Memari, Yasin
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Davies, Helen
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Nik-Zainal, Sere ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Nature Cancer
- By the university
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Lund University