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Landscape of somati...
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Nik-Zainal, SerenaWellcome Trust Sanger Institute
(author)
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2016-05-02
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Springer Science and Business Media LLC,2016
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8 s.
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:78b7cd41-aebe-4756-b732-c07ef1455952
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https://lup.lub.lu.se/record/78b7cd41-aebe-4756-b732-c07ef1455952URI
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https://doi.org/10.1038/nature17676DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Davies, HelenWellcome Trust Sanger Institute
(author)
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Staaf, JohanLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-jst
(author)
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Ramakrishna, ManasaWellcome Trust Sanger Institute
(author)
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Glodzik, DominikWellcome Trust Sanger Institute
(author)
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Zou, XueqingWellcome Trust Sanger Institute
(author)
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Martincorena, InigoWellcome Trust Sanger Institute
(author)
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Alexandrov, Ludmil BWellcome Trust Sanger Institute
(author)
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Martin, SanchaWellcome Trust Sanger Institute
(author)
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Wedge, David CWellcome Trust Sanger Institute
(author)
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Van Loo, Peter
(author)
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Ju, Young Seok
(author)
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Smid, Marcel
(author)
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Brinkman, Arie B
(author)
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Morganella, Sandro
(author)
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Aure, Miriam R
(author)
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Lingjærde, Ole Christian
(author)
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Langerød, Anita
(author)
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Ringnér, MarkusLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)thep-mri
(author)
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Ahn, Sung-Min
(author)
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Boyault, Sandrine
(author)
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Brock, Jane E
(author)
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Broeks, Annegien
(author)
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Butler, Adam
(author)
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Desmedt, Christine
(author)
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Dirix, Luc
(author)
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Dronov, Serge
(author)
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Fatima, Aquila
(author)
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Foekens, John A
(author)
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Gerstung, Moritz
(author)
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Hooijer, Gerrit K J
(author)
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Jang, Se Jin
(author)
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Jones, David R
(author)
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Kim, Hyung-Yong
(author)
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King, Tari A
(author)
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Krishnamurthy, Savitri
(author)
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Lee, Hee Jin
(author)
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Lee, Jeong-Yeon
(author)
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Li, Yilong
(author)
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McLaren, Stuart
(author)
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Menzies, Andrew
(author)
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Mustonen, Ville
(author)
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O'Meara, Sarah
(author)
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Pauporté, Iris
(author)
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Pivot, Xavier
(author)
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Purdie, Colin A
(author)
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Raine, Keiran
(author)
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Ramakrishnan, Kamna
(author)
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Rodríguez-González, F Germán
(author)
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Romieu, Gilles
(author)
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Sieuwerts, Anieta M
(author)
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Simpson, Peter T
(author)
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Shepherd, Rebecca
(author)
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Stebbings, Lucy
(author)
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Stefansson, Olafur A
(author)
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Teague, Jon
(author)
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Tommasi, Stefania
(author)
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Treilleux, Isabelle
(author)
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Van den Eynden, Gert G
(author)
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Vermeulen, Peter
(author)
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Vincent-Salomon, Anne
(author)
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Yates, Lucy
(author)
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Caldas, Carlos
(author)
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van't Veer, Laura
(author)
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Tutt, Andrew
(author)
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Knappskog, Stian
(author)
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Tan, Benita Kiat Tee
(author)
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Jonkers, Jos
(author)
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Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)onk-abo
(author)
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Ueno, Naoto T
(author)
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Sotiriou, Christos
(author)
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Viari, Alain
(author)
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Futreal, P Andrew
(author)
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Campbell, Peter J
(author)
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Span, Paul N
(author)
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Van Laere, Steven
(author)
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Lakhani, Sunil R
(author)
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Eyfjord, Jorunn E
(author)
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Thompson, Alastair M
(author)
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Birney, Ewan
(author)
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Stunnenberg, Hendrik G
(author)
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van de Vijver, Marc J
(author)
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Martens, John W M
(author)
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Børresen-Dale, Anne-Lise
(author)
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Richardson, Andrea L
(author)
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Kong, Gu
(author)
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Thomas, Gilles
(author)
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Stratton, Michael R
(author)
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Wellcome Trust Sanger InstituteBröstcancer-genetik
(creator_code:org_t)
Related titles
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In:Nature: Springer Science and Business Media LLC534:7605, s. 47-540028-08361476-4687
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- By the author/editor
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Nik-Zainal, Sere ...
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Davies, Helen
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Staaf, Johan
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Ramakrishna, Man ...
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Glodzik, Dominik
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Zou, Xueqing
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show more...
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Martincorena, In ...
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Alexandrov, Ludm ...
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Martin, Sancha
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Wedge, David C
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Van Loo, Peter
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Ju, Young Seok
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Smid, Marcel
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Brinkman, Arie B
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Morganella, Sand ...
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Aure, Miriam R
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Lingjærde, Ole C ...
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Langerød, Anita
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Ringnér, Markus
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Ahn, Sung-Min
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Boyault, Sandrin ...
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Brock, Jane E
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Broeks, Annegien
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Butler, Adam
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Desmedt, Christi ...
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Dirix, Luc
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Dronov, Serge
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Fatima, Aquila
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Foekens, John A
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Gerstung, Moritz
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Hooijer, Gerrit ...
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Jang, Se Jin
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Jones, David R
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Kim, Hyung-Yong
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King, Tari A
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Krishnamurthy, S ...
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Lee, Hee Jin
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Lee, Jeong-Yeon
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Li, Yilong
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McLaren, Stuart
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Menzies, Andrew
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Mustonen, Ville
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O'Meara, Sarah
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Pauporté, Iris
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Pivot, Xavier
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Purdie, Colin A
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Raine, Keiran
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Ramakrishnan, Ka ...
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Rodríguez-Gonzál ...
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Romieu, Gilles
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Sieuwerts, Aniet ...
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Simpson, Peter T
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Shepherd, Rebecc ...
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Stebbings, Lucy
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Stefansson, Olaf ...
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Teague, Jon
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Tommasi, Stefani ...
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Treilleux, Isabe ...
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Van den Eynden, ...
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Vermeulen, Peter
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Vincent-Salomon, ...
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Yates, Lucy
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Caldas, Carlos
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van't Veer, Laur ...
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Tutt, Andrew
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Knappskog, Stian
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Tan, Benita Kiat ...
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Jonkers, Jos
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Borg, Åke
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Ueno, Naoto T
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Sotiriou, Christ ...
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Viari, Alain
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Futreal, P Andre ...
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Campbell, Peter ...
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Span, Paul N
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Van Laere, Steve ...
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Lakhani, Sunil R
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Eyfjord, Jorunn ...
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Thompson, Alasta ...
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Birney, Ewan
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Stunnenberg, Hen ...
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van de Vijver, M ...
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Martens, John W ...
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Børresen-Dale, A ...
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Richardson, Andr ...
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Kong, Gu
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Thomas, Gilles
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Stratton, Michae ...
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