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Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S, Heskin L, Degasperi A, Black D, Koh GCC, Chmelova L, Rinaldi G, Bell S, Grybowicz L, Elgar G, Memari Y, Robbe P, Kingsbury Z, Caldas C, Abraham J, Schuh A, Jones L; PARTNER Trial Group; Personalised Breast Cancer Program Group; Tischkowitz M, Brown MA, Davies HR, Nik-Zainal S. Basyuni S, et al. Among authors: davies hr. Nat Commun. 2024 Sep 4;15(1):7731. doi: 10.1038/s41467-024-51577-2. Nat Commun. 2024. PMID: 39231944 Free PMC article.
Holistic cancer genome profiling for every patient.
Nik-Zainal S, Memari Y, Davies HR. Nik-Zainal S, et al. Among authors: davies hr. Swiss Med Wkly. 2020 Jan 27;150:w20158. doi: 10.4414/smw.2020.20158. eCollection 2020 Jan 13. Swiss Med Wkly. 2020. PMID: 31986218 Free PMC article. Review.
A practical guide for mutational signature analysis in hematological malignancies.
Maura F, Degasperi A, Nadeu F, Leongamornlert D, Davies H, Moore L, Royo R, Ziccheddu B, Puente XS, Avet-Loiseau H, Campbell PJ, Nik-Zainal S, Campo E, Munshi N, Bolli N. Maura F, et al. Nat Commun. 2019 Jul 5;10(1):2969. doi: 10.1038/s41467-019-11037-8. Nat Commun. 2019. PMID: 31278357 Free PMC article.
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S. Staaf J, et al. Among authors: davies hr. Nat Med. 2019 Oct;25(10):1526-1533. doi: 10.1038/s41591-019-0582-4. Epub 2019 Sep 30. Nat Med. 2019. PMID: 31570822 Free PMC article.
A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies.
Degasperi A, Amarante TD, Czarnecki J, Shooter S, Zou X, Glodzik D, Morganella S, Nanda AS, Badja C, Koh G, Momen SE, Georgakopoulos-Soares I, Dias JML, Young J, Memari Y, Davies H, Nik-Zainal S. Degasperi A, et al. Nat Cancer. 2020 Feb;1(2):249-263. doi: 10.1038/s43018-020-0027-5. Epub 2020 Feb 17. Nat Cancer. 2020. PMID: 32118208 Free PMC article.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. Nat Commun. 2020. PMID: 32958763 Free PMC article.
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Degasperi A, Zou X, Amarante TD, Martinez-Martinez A, Koh GCC, Dias JML, Heskin L, Chmelova L, Rinaldi G, Wang VYW, Nanda AS, Bernstein A, Momen SE, Young J, Perez-Gil D, Memari Y, Badja C, Shooter S, Czarnecki J, Brown MA, Davies HR; Genomics England Research Consortium; Nik-Zainal S. Degasperi A, et al. Among authors: davies hr. Science. 2022 Apr 22;376(6591):science.abl9283. doi: 10.1126/science.abl9283. eCollection 2022 Apr 22. Science. 2022. PMID: 35949260 Free PMC article.
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingjærde OC, Langerød A, Ringnér M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O'Meara S, Pauporté I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodríguez-González FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van't Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg Å, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR. Nik-Zainal S, et al. Nature. 2016 Jun 2;534(7605):47-54. doi: 10.1038/nature17676. Epub 2016 May 2. Nature. 2016. PMID: 27135926 Free PMC article.
158 results