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Sökning: WFRF:(Mitchell P) > Uppsala universitet

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1.
  • Ramdas, S., et al. (författare)
  • A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
  • 2022
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
  • Tidskriftsartikel (refereegranskat)abstract
    • A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
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3.
  • Campbell, PJ, et al. (författare)
  • Pan-cancer analysis of whole genomes
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
  • Tidskriftsartikel (refereegranskat)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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4.
  • Ablikim, M., et al. (författare)
  • Measurement of e(+)e(-) -> K(K)over-barJ/psi cross sections at center-of-mass energies from 4.189 to 4.600 GeV
  • 2018
  • Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:7
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigate the process e(+)e(-) -> K (K) over barJ/psi at center-of-mass energies from 4.189 to 4.600 GeV using 4.7 fb(-1) of data collected by the BESIII detector at the BEPCII collider. The Born cross sections for the reactions e(+)e(-) -> K(+)K(-)J/psi and K(S)(0)K(S)(0)J/psi are measured as a function of center-of-mass energy. The energy dependence of the cross section for e(+)e(-) -> K(+)K(-)J/psi is shown to differ from that for pi(+)pi(-)J/psi in the region around the Y(4260). In addition, there is evidence for a structure around 4.5 GeV in the e(+)e(-) -> K(+)K(-)J/psi cross section that is not present in pi(+)pi(-)J/psi.
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5.
  • Ablikim, M., et al. (författare)
  • Measurement of Singly Cabibbo Suppressed Decays Lambda(+)(c) -> p pi(+)pi(-) and Lambda(+)(c) -> pK(+)K(-)
  • 2016
  • Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 117:23
  • Tidskriftsartikel (refereegranskat)abstract
    • Using 567 pb(-1) of data collected with the BESIII detector at a center-of-mass energy of root s = 4.599 GeV, near the Lambda(+)(c)->(Lambda) over bar (-)(c) threshold, we study the singly Cabibbo-suppressed decays Lambda c(+) -> p pi(+) pi(-) and Lambda(+)(c) -> pK(+) K- By normalizing with respect to the Cabibbo-favored decay Lambda(+)(c)-> p pi(+)pi(-) we obtain ratios of branching fractions: [B(Lambda(+)(c) -> p pi(+)pi(-))/B(Lambda(+)(c) -> pK(-)pi(+))] = (6.70 +/- 0.48 +/- 0.25)% [B Lambda(+)(c) -> p phi)/B(Lambda(+)(c) -> pK(-)pi(+))] = (1.81 +/- 0.33 +/- 0.13)%,and [B(Lambda(+)(c) -> pK(+)K(non-phi)(-)/B(Lambda(+)(c) -> pK(-)pi(+))] (9.36 +/- 2.22 +/- 0.71)x10(-3), where the uncertainties are statistical and systematic, respectively. The absolute branching fractions are also presented. Among these measurements, the decay Lambda(+)(c) -> p pi(+)pi(-) is observed for the first time, and the precision of the branching fraction for Lambda(+)(c) -> pK(+)K(non-phi)(-) and Lambda(+)(c) -> p phi is significantly improved.
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6.
  • Ablikim, M., et al. (författare)
  • Measurement of the absolute branching fraction of D*(s0) (2317)(+/-) -> pi D-0(s)+/-
  • 2018
  • Ingår i: Physical Review D. - : American Physical Society. - 2470-0010 .- 2470-0029. ; 97:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The process e(+)e(-) -> D*D-+(s)*(s0) (2317)(-) + c.c. is observed for the first time with the data sample of 567 pb(-1) collected with the BESIII detector operating at the BEPCII collider at a center-of-mass energy root s = 4.6 GeV. The statistical significance of the D*(s0) (2317)(+/-) signal is 5.8 sigma and the mass is measured to be (2318.3 +/- 1.2 +/- 1.2) MeV/c(2). The absolute branching fraction B(D*(s0) (2317)(+/-) -> pi D-0(s)+/-) is measured as 1.00(-0.14)(+0.00) (stat)(-0.14)(+0.00) (syst) for the first time. The uncertainties are statistical and systematic, respectively.
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7.
  • Ablikim, M., et al. (författare)
  • Measurements of the absolute branching fractions for D-s(+) -> eta e(+)nu(e) and D-s(+) -> eta ' e(+)nu(e)
  • 2016
  • Ingår i: PHYSICAL REVIEW D. - 2470-0010. ; 94:11
  • Tidskriftsartikel (refereegranskat)abstract
    • By analyzing 482 pb(-1) of e(+)e(-) collision data collected at root s = 4.009 GeV with the BESIII detector at the BEPCII collider, we measure the absolute branching fractions for the semileptonic decays D-s(+) -> eta e(+)nu(e) and D-s(+) -> eta ' e(+)nu(e) to be B(D-s(+) -> eta e(+)nu(e)) = (2.30 +/- 0.31 +/- 0.08)% and B(D-s(+) -> eta ' e(+)nu(e)) = (0.93 +/- 0.30 +/- 0.05)%, respectively, and their ratio B(D-s(+) -> eta ' e(+)nu(e)) / B(D-s(+) -> eta ' e(+)nu(e)) = 0.40 +/- 0.14 +/- 0.02, where the first uncertainties are statistical and the second ones are systematic. The results are in good agreement with previous measurements within uncertainties; they can be used to determine the eta-eta' mixing angle and improve upon the D-s(+) semileptonic branching ratio precision.
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8.
  • Ablikim, M., et al. (författare)
  • Measurements of the branching fractions of the singly Cabibbo-suppressed decays D0→ωη, η(')π0 and η(')η
  • 2018
  • Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:5
  • Tidskriftsartikel (refereegranskat)abstract
    • By analyzing a data sample of 2.93 fb(-1) collected at root s = 3.773 GeV with the BESIII detector operated at the BEPCII storage rings, we measure the branching fractions B(D-0 -> omega eta) = (2.15 +/- 0.17(stat) +/- 0.15(sys)) x 10(-3), B(D-0 ->eta pi(0)) = (0.58 +/- 0.05(stat) +/- 0.05(sys)) x 10(-3), B(D-0 ->eta'pi(0)) = (0.93 +/- 0.11(stat) +/- 0.09(sys)) x 10(-3), B(D-0 -> eta eta) = (2.20 +/- 0.07(stat) +/- 0.06(sys)) x 10(-3) and B(D-0 -> eta'eta) = (0.94 degrees +/- 0.25(stat) +/- 0.11(sys)) x 10(-3). We note that B(D-0 -> omega eta) is measured for the first time and that B(D-0 -> eta eta) is measured with much improved precision.
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9.
  • Ablikim, M., et al. (författare)
  • Observation of an Anomalous Line Shape of the eta 'pi(+)pi(-) Mass Spectrum near the p(p)over-bar Mass Threshold in J/psi -> gamma eta 'pi(+)pi(-)
  • 2016
  • Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 117:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Using 1.09 x 10(9) J/psi events collected by the BESIII experiment in 2012, we study the J / psi -> gamma eta'pi(+)pi(-) process and observe a significant abrupt change in the slope of the eta'pi(+)pi(-) invariant mass distribution at the proton-antiproton (p (p) over bar) mass threshold. We use two models to characterize the eta'pi(+)pi(-) line shape around 1.85 GeV/c(2): one that explicitly incorporates the opening of a decay threshold in the mass spectrum (Flatte formula), and another that is the coherent sum of two resonant amplitudes. Both fits show almost equally good agreement with data, and suggest the existence of either a broad state around 1.85 GeV/c(2) with strong couplings to the c final states or a narrow state just below the p (p) over bar mass threshold. Although we cannot distinguish between the fits, either one supports the existence of a p (p) over bar moleculelike state or bound state with greater than 7 sigma significance.
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10.
  • Ablikim, M., et al. (författare)
  • Observation of e(+)e(-) -> phi chi(c1) and phi chi(c2) at root s=4.600 GeV
  • 2018
  • Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Using a data sample collected with the BESIII detector operating at the BEPCII storage ring at a center-of-mass energy of root s = 4.600 GeV, we search for the production of e(+)e(-) -> phi chi(c0,1,2). A search is also performed for the charmonium-like state X(4140) in the radiative transition e(+)e(-) -> gamma X(4140) with X(4140) subsequently decaying into phi J/psi The processes e(+)e(-) -> phi chi(c1) and phi chi(c2) are observed for the first time, each with a statistical significance of more than 10 sigma, and the Born cross sections are measured to be (4.2(-1.0)(+1.7) +/- 0.3) and (6.7(-1.7)(+3.4) +/- 0.5) pb, respectively, where the first uncertainties are statistical and the second systematic. No significant signals are observed for e(+)e(-) -> phi chi(c0) and e(+)e(-) -> gamma X(4140) and upper limits on the Born cross sections at 90% C. L. are provided at root s = 4.600 GeV.
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