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- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Abazov, V. M., et al.
(author)
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Z gamma production and limits on anomalous ZZ gamma and Z gamma gamma couplings in pp collisions at root s=1.96 TeV
- 2007
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In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 653:5-6, s. 378-386
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Journal article (peer-reviewed)abstract
- We present a study of eey and mu mu gamma events using 1109 (1009) pb-(1) of data in the electron (muon) channel, respectively. These data were collected with the DO detector at the Fermilab Tevatron pp collider at Is = 1.96 TeV. Having observed 453 (515) candidates in the eey (jtAy) final state, we measure the Z gamma production cross section for a photon with transverse energy ET > 7 GeV, separation between the photon and leptons Delta Rey > 0.7, and invariant mass of the di-lepton pair Mee > 30 GeV/(2)(c), to be 4.96 0.30(stat. + syst.) zE 0.30(lumi.) pb, in agreement with the Standard Model prediction of 4.74 0.22 pb. This is the most precise Zy cross section measurement at a hadron collider. We set limits on anomalous trilinear Zyy and ZZy gauge boson couplings of -0.085 < h(30)(y) < 0.084, -0.0053 < h(40)(y) < 0.0054 and -0.083 < h(30)(Z) < 0.082, 30 40 30 -0.0053 < h(40)(Z) < 0.0054 at the 95% C.L. for the form-factor scale A = 1.2 TeV. 40 .
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- Keshavan, Ashvini, et al.
(author)
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CSF biomarkers for dementia.
- 2022
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In: Practical neurology. - : BMJ. - 1474-7766 .- 1474-7758. ; 22:4, s. 285-294
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Journal article (peer-reviewed)abstract
- Although cerebrospinal fluid (CSF) biomarker testing is incorporated into some current guidelines for the diagnosis of dementia (such as England's National Institute for Health and Care Excellence (NICE)), it is not widely accessible for most patients for whom biomarkers could potentially change management. Here we share our experience of running a clinical cognitive CSF service and discuss recent developments in laboratory testing including the use of the CSF amyloid-β 42/40 ratio and automated assay platforms. We highlight the importance of collaborative working between clinicians and laboratory staff, of preanalytical sample handling, and discuss the various factors influencing interpretation of the results in appropriate clinical contexts. We advocate for broadening access to CSF biomarkers by sharing clinical expertise, protocols and interpretation with colleagues working in psychiatry and elderly care, especially when access to CSF may be part of a pathway to disease-modifying treatments for Alzheimer's disease and other forms of dementia.
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