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1.
  • Elsik, Christine G., et al. (författare)
  • The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
  • 2009
  • Ingår i: Science. - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
  • Tidskriftsartikel (refereegranskat)abstract
    • To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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2.
  • Wang, Zhaoming, et al. (författare)
  • Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
  • 2014
  • Ingår i: Human Molecular Genetics. - 0964-6906. ; 23:24, s. 6616-6633
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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3.
  • Weinstein, J. N., et al. (författare)
  • The cancer genome atlas pan-cancer analysis project
  • 2013
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
  • Tidskriftsartikel (refereegranskat)abstract
    • The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile.
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8.
  • Abazov, V. M., et al. (författare)
  • A novel method for modeling the recoil in W boson events at hadron colliders
  • 2009
  • Ingår i: Nuclear Instruments and Methods in Physics Research Section A : Accelerators, Spectrometers, Detectors and Associated Equipment. - 0168-9002 .- 1872-9576. ; 609:2-3, s. 250-262
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a new method for modeling the hadronic recoil in W -> lv events produced at hadron colliders. The recoil is chosen from a library of recoils in Z -> ll data events and overlaid on a simulated W -> lv event. Implementation of this method requires that the data recoil library describe the proper-ties of the measured recoil as a function of the true, rather than the measured, transverse momentum of the boson. We address this issue using a multidimensional Bayesian unfolding technique. We estimate the statistical and systematic uncertainties from this method for the W boson mass and width measurements assuming 1 fb(-1) of data from the Fermilab Tevatron. The uncertainties are found to be small and comparable to those of a more traditional parameterized recoil model. For the highprecision measurements that will be possible with data from Run 11 of the Fermilab Tevatron and from the CERN LHC, the method presented in this paper may be advantageous, since it does not require an understanding of the measured recoil from first principles.
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9.
  • Abazov, V. M., et al. (författare)
  • Determination of the strong coupling constant from the inclusive jet cross section in pp collisions at s=1.96 TeV
  • 2009
  • Ingår i: PHYS REV D. - 1550-7998. ; 80:11, s. 111107
  • Tidskriftsartikel (refereegranskat)abstract
    • We determine the strong coupling constant alpha(s) and its energy dependence from the p(T) dependence of the inclusive jet cross section in pp collisions at s=1.96 TeV. The strong coupling constant is determined over the transverse momentum range 50 < p(T)< 145 GeV. Using perturbative QCD calculations to order O(alpha(3)(s)) combined with O(alpha(4)(s)) contributions from threshold corrections, we obtain alpha(s)(M-Z)=0.1161(-0.0048)(+0.0041). This is the most precise result obtained at a hadron-hadron collider.
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10.
  • Abazov, V. M., et al. (författare)
  • Direct Measurement of the W Boson Width
  • 2009
  • Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 103:23, s. 231802
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a direct measurement of the width of the W boson using the shape of the transverse mass distribution of W -> e nu candidate events. Data from approximately 1 fb(-1) of integrated luminosity recorded at s=1.96 TeV by the D0 detector at the Fermilab Tevatron pp collider are analyzed. We use the same methods and data sample that were used for our recently published W boson mass measurement, except for the modeling of the recoil, which is done with a new method based on a recoil library. Our result, 2.028 +/- 0.072 GeV, is in agreement with the predictions of the standard model.
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