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| 2. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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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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| 3. |
- Ramdas, S., et al.
(författare)
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
- 2022
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
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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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| 4. |
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| 5. |
- Achberger, Christine, 1968, et al.
(författare)
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State of the Climate in 2011
- 2012
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Ingår i: Bulletin of the American Meteorological Society. - 0003-0007. ; 93:7, s. S1-S263
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Tidskriftsartikel (refereegranskat)abstract
- Large-scale climate patterns influenced temperature and weather patterns around the globe in 2011. In particular, a moderate-to-strong La Nina at the beginning of the year dissipated during boreal spring but reemerged during fall. The phenomenon contributed to historical droughts in East Africa, the southern United States, and northern Mexico, as well the wettest two-year period (2010-11) on record for Australia, particularly remarkable as this follows a decade-long dry period. Precipitation patterns in South America were also influenced by La Nina. Heavy rain in Rio de Janeiro in January triggered the country's worst floods and landslides in Brazil's history. The 2011 combined average temperature across global land and ocean surfaces was the coolest since 2008, but was also among the 15 warmest years on record and above the 1981-2010 average. The global sea surface temperature cooled by 0.1 degrees C from 2010 to 2011, associated with cooling influences of La Nina. Global integrals of upper ocean heat content for 2011 were higher than for all prior years, demonstrating the Earth's dominant role of the oceans in the Earth's energy budget. In the upper atmosphere, tropical stratospheric temperatures were anomalously warm, while polar temperatures were anomalously cold. This led to large springtime stratospheric ozone reductions in polar latitudes in both hemispheres. Ozone concentrations in the Arctic stratosphere during March were the lowest for that period since satellite records began in 1979. An extensive, deep, and persistent ozone hole over the Antarctic in September indicates that the recovery to pre-1980 conditions is proceeding very slowly. Atmospheric carbon dioxide concentrations increased by 2.10 ppm in 2011, and exceeded 390 ppm for the first time since instrumental records began. Other greenhouse gases also continued to rise in concentration and the combined effect now represents a 30% increase in radiative forcing over a 1990 baseline. Most ozone depleting substances continued to fall. The global net ocean carbon dioxide uptake for the 2010 transition period from El Nino to La Nina, the most recent period for which analyzed data are available, was estimated to be 1.30 Pg C yr(-1), almost 12% below the 29-year long-term average. Relative to the long-term trend, global sea level dropped noticeably in mid-2010 and reached a local minimum in 2011. The drop has been linked to the La Nina conditions that prevailed throughout much of 2010-11. Global sea level increased sharply during the second half of 2011. Global tropical cyclone activity during 2011 was well-below average, with a total of 74 storms compared with the 1981-2010 average of 89. Similar to 2010, the North Atlantic was the only basin that experienced above-normal activity. For the first year since the widespread introduction of the Dvorak intensity-estimation method in the 1980s, only three tropical cyclones reached Category 5 intensity level-all in the Northwest Pacific basin. The Arctic continued to warm at about twice the rate compared with lower latitudes. Below-normal summer snowfall, a decreasing trend in surface albedo, and above-average surface and upper air temperatures resulted in a continued pattern of extreme surface melting, and net snow and ice loss on the Greenland ice sheet. Warmer-than-normal temperatures over the Eurasian Arctic in spring resulted in a new record-low June snow cover extent and spring snow cover duration in this region. In the Canadian Arctic, the mass loss from glaciers and ice caps was the greatest since GRACE measurements began in 2002, continuing a negative trend that began in 1987. New record high temperatures occurred at 20 m below the land surface at all permafrost observatories on the North Slope of Alaska, where measurements began in the late 1970s. Arctic sea ice extent in September 2011 was the second-lowest on record, while the extent of old ice (four and five years) reached a new record minimum that was just 19% of normal. On the opposite pole, austral winter and spring temperatures were more than 3 degrees C above normal over much of the Antarctic continent. However, winter temperatures were below normal in the northern Antarctic Peninsula, which continued the downward trend there during the last 15 years. In summer, an all-time record high temperature of -12.3 degrees C was set at the South Pole station on 25 December, exceeding the previous record by more than a full degree. Antarctic sea ice extent anomalies increased steadily through much of the year, from briefly setting a record low in April, to well above average in December. The latter trend reflects the dispersive effects of low pressure on sea ice and the generally cool conditions around the Antarctic perimeter.
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| 6. |
- Ablikim, M., et al.
(författare)
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Observation of e(+)e(-) -> pi(0)pi(0)h(c) and a Neutral Charmoniumlike Structure Z(c)(4020)(0)
- 2014
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 113:21, s. 212002-
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Tidskriftsartikel (refereegranskat)abstract
- Using data collected with the BESIII detector operating at the Beijing Electron Positron Collider at center-of-mass energies of root s = 4.23, 4.26, and 4.36 GeV, we observe e(+)e(-) -> pi(0)pi(0)h(c) for the first time. The Born cross sections are measured and found to be about half of those of e(+)e(-) -> pi(+)pi(-)h(c) within less than 2 sigma. In the pi(0)h(c) mass spectrum, a structure at 4.02 GeV/c(2) is found. It is most likely to be the neutral isospin partner of the Z(c)(4020)(+/-) observed in the process of e(+)e(-) -> pi(+)pi(-)h(c) being found. A fit to the pi(0)h(c) invariant mass spectrum, with the width of the Z(c)(4020)(0) fixed to that of its charged isospin partner and possible interferences with non-Z(c)(4020)(0) amplitudes neglected, gives a mass of (4023.9 +/- 2.2 +/- 3.8) MeV/c(2) for the Z(c)(4020)(0), where the first error is statistical and the second systematic.
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| 7. |
- Ablikim, M., et al.
(författare)
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Search for C-parity violation in J/psi -> gamma gamma and gamma phi
- 2014
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 90:9, s. 092002-
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Tidskriftsartikel (refereegranskat)abstract
- Using 1.06 x 10(8) psi(3686) events recorded in e(+)e(-) collisions at root s = 3.686 GeV with the BESIII at the BEPCII collider, we present searches for C-parity violation in J/psi -> gamma gamma and gamma phi decays via psi(3686) -> J/psi pi(+)pi(-). No significant signals are observed in either channel. Upper limits on the branching fractions are set to be B(J/psi -> gamma gamma) < 2.7 x 10(-7) and B(J/psi -> gamma phi) < 1.4 x 10(-6) at the 90% confidence level. The former is one order of magnitude more stringent than the previous upper limit, and the latter represents the first limit on this decay channel.
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| 8. |
- Ablikim, M., et al.
(författare)
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Observation of J/psi -> p(p)over-bara(0)(980) at BESIII
- 2014
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 90:5, s. 052009-
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Tidskriftsartikel (refereegranskat)abstract
- Using 2.25 x 10(8) J/psi events collected with the BESIII detector at the BEPCII storage rings, we observe for the first time the process J/psi -> p (p) over bara(0)(980) -> pi(0)eta with a significance of 6.5 sigma (3.2 sigma including systematic uncertainties). The product branching fraction of J/psi -> p (p) over bara(0)(980) -> p (p) over bara(0)pi(0)eta is measured to be (6.8 +/- 1.2 +/- 1.3) x 10(-5), where the first error is statistical and the second is systematic. This measurement provides information on the a(0) production near threshold coupling to p (p) over bar and improves the understanding of the dynamics of J/psi decays to four-body processes.
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| 9. |
- Ablikim, M., et al.
(författare)
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Observation of e(+)e(-) -> gamma X(3872) at BESIII
- 2014
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 112:9, s. 092001-
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Tidskriftsartikel (refereegranskat)abstract
- With data samples collected with the BESIII detector operating at the BEPCII storage ring at center-of-mass energies from 4.009 to 4.420 GeV, the process e(+)e(-) -> gamma X(3872) is observed for the first time with a statistical significance of 6.3 sigma. The measured mass of the X(3872) is (3871.9 +/- 0.7(stat) +/- 0.2(syst)) MeV/c(2), in agreement with previous measurements. Measurements of the product of the cross section sigma[e(+)e(-) -> gamma X(3872)] and the branching fraction B [X(3872) -> pi(+)pi(-)J/psi] at center-of-mass energies 4.009, 4.229, 4.260, and 4.360 GeV are reported. Our measurements are consistent with expectations for the radiative transition process Y(4260) -> gamma X(3872).
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| 10. |
- Ablikim, M., et al.
(författare)
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Amplitude analysis of the D+ -> K-S(0)pi + (0)(pi) Dalitz plot
- 2014
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 89:5, s. 052001-
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Tidskriftsartikel (refereegranskat)abstract
- We perform an analysis of the D+ -> K-S(0)pi + (0)(pi) Dalitz plot using a data set of 2.92 fb(-1) of e(+) e(-) collisions at the (3770) mass accumulated by the BESIII experiment, in which 166694 candidate events are selected with a background of 15.1%. The Dalitz plot is found to be well represented by a combination of six quasitwo- body decay channels [k(SP)(0)(+) (1450)(+,) ] plus a small nonresonant component. Using the fit fractions from this analysis, partial branching ratios are updated with higher precision than previous measurements.
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