| 1. |
- Elsik, Christine G., et al.
(författare)
-
The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 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.
|
|
| 2. |
- Palmer, Nicholette D, et al.
(författare)
-
A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
-
Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
-
Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
|
|
| 3. |
- Andersson, Anna, et al.
(författare)
-
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.
- 2015
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:4, s. 192-330
-
Tidskriftsartikel (refereegranskat)abstract
- Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older children (MLL-R cases) with leukemia. Our data show that infant MLL-R ALL has one of the lowest frequencies of somatic mutations of any sequenced cancer, with the predominant leukemic clone carrying a mean of 1.3 non-silent mutations. Despite this paucity of mutations, we detected activating mutations in kinase-PI3K-RAS signaling pathway components in 47% of cases. Surprisingly, these mutations were often subclonal and were frequently lost at relapse. In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL.
|
|
| 4. |
- Bock, Alexander, 1985-, et al.
(författare)
-
OpenSpace : An open-source astrovisualization framework
- 2017
-
Ingår i: Journal of Open Source Software. - : The Open Journal. - 2475-9066. ; 2:15
-
Tidskriftsartikel (refereegranskat)abstract
- OpenSpace (2017; Bock et al. 2017)is an open source interactive data visualization software designed to visualize the entire known universe and portray our ongoing efforts to investigate the cosmos (Bladin, Karl and Axelsson, Emil and Broberg, Erik and Emmart, Carter and Ljung, Patric and Bock, Alexander and Ynnerman, Anders 2017; Bock, Pembroke, et al. 2015). Bringing the latest techniques from data visualization research to the general public and scientists (Bock, Marcinkowski, et al. 2015), OpenSpace supports interactive presentation of dynamic data from observations, simulations, and space mission planning and operations over a large span of sizes (Axelsson, Emil and Costa, Jonathas and Silva, Cláudio T. and Emmart, Carter and Bock, Alexander and Ynnerman, Anders 2017). The software supports multiple operating systems with an extensible architecture powering high resolution tiled displays, planetarium domes, as well as desktop computers. In addition, OpenSpace enables simultaneous connections across the globe creating opportunity for shared experiences among audiences worldwide.
|
|
| 5. |
- Eriksson, Susanna K, et al.
(författare)
-
A versatile photoelectron spectrometer for pressures up to 30 mbar
- 2014
-
Ingår i: Review of Scientific Instruments. - : American Institute of Physics (AIP). - 0034-6748 .- 1089-7623. ; 85:7, s. 075119-
-
Tidskriftsartikel (refereegranskat)abstract
- High-pressure photoelectron spectroscopy is a rapidly developing technique with applications in a wide range of fields ranging from fundamental surface science and catalysis to energy materials, environmental science, and biology. At present the majority of the high-pressure photoelectron spectrometers are situated at synchrotron end stations, but recently a small number of laboratory-based setups have also emerged. In this paper we discuss the design and performance of a new laboratory based high pressure photoelectron spectrometer equipped with an Al Ka X-ray anode and a hemispherical electron energy analyzer combined with a differentially pumped electrostatic lens. The instrument is demonstrated to be capable of measuring core level spectra at pressures up to 30 mbar. Moreover, valence band spectra of a silver sample as well as a carbon-coated surface (graphene) recorded under a 2 mbar nitrogen atmosphere are presented, demonstrating the versatility of this laboratory-based spectrometer.
|
|
| 6. |
- Farnocchia, Davide, et al.
(författare)
-
International Asteroid Warning Network Timing Campaign: 2019 XS
- 2022
-
Ingår i: The Planetary Science Journal. - : Institute of Physics Publishing (IOPP). - 2632-3338. ; 3:7
-
Tidskriftsartikel (refereegranskat)abstract
- As part of the International Asteroid Warning Network's observational exercises, we conducted a campaign to observe near-Earth asteroid 2019 XS around its close approach to Earth on 2021 November 9. The goal of the campaign was to characterize errors in the observation times reported to the Minor Planet Center, which become an increasingly important consideration as astrometric accuracy improves and more fast-moving asteroids are observed. As part of the exercise, a total of 957 astrometric observations of 2019 XS during the encounter were reported and subsequently were analyzed to obtain the corresponding residuals. While the timing errors are typically smaller than 1 s, the reported times appear to be negatively biased, i.e., they are generally earlier than they should be. We also compared the observer-provided position uncertainty with the cross-track residuals, which are independent of timing errors. A large fraction of the estimated uncertainties appear to be optimistic, especially when <0 2. We compiled individual reports for each observer to help identify and remove the root cause of any possible timing error and improve the uncertainty quantification process. We suggest possible sources of timing errors and describe a simple procedure to derive reliable, conservative position uncertainties.
|
|
| 7. |
- Farnocchia, Davide, et al.
(författare)
-
The Second International Asteroid Warning Network Timing Campaign: 2005 LW3
- 2023
-
Ingår i: The Planetary Science Journal. - : Institute of Physics (IOP). - 2632-3338. ; 4:11
-
Tidskriftsartikel (refereegranskat)abstract
- The Earth close approach of near-Earth asteroid 2005 LW3 on 2022 November 23 represented a good opportunity for a second observing campaign to test the timing accuracy of astrometric observation. With 82 participating stations, the International Asteroid Warning Network collected 1046 observations of 2005 LW3 around the time of the close approach. Compared to the previous timing campaign targeting 2019 XS, some individual observers were able to significantly improve the accuracy of their reported observation times. In particular, U.S. surveys achieved good timing performance. However, no broad, systematic improvement was achieved compared to the previous campaign, with an overall negative bias persisting among the different observers. The calibration of observing times and the mitigation of timing errors should be important future considerations for observers and orbit computers, respectively.
|
|
| 8. |
- Holmfeldt, Linda, et al.
(författare)
-
The genomic landscape of hypodiploid acute lymphoblastic leukemia
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:3, s. 242-252
-
Tidskriftsartikel (refereegranskat)abstract
- The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 hypodiploid ALL cases, including whole-genome and exome sequencing of 40 cases, identified two subtypes that differ in the severity of aneuploidy, transcriptional profiles and submicroscopic genetic alterations. Near-haploid ALL with 24-31 chromosomes harbor alterations targeting receptor tyrosine kinase signaling and Ras signaling (71%) and the lymphoid transcription factor gene IKZF3 (encoding AIOLOS; 13%). In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). Both near-haploid and low-hypodiploid leukemic cells show activation of Ras-signaling and phosphoinositide 3-kinase (PI3K)-signaling pathways and are sensitive to PI3K inhibitors, indicating that these drugs should be explored as a new therapeutic strategy for this aggressive form of leukemia.
|
|
| 9. |
- Lee, J. -Y, et al.
(författare)
-
ABRF Proteome Informatics Research Group (iPRG) 2016 Study : Inferring Proteoforms from Bottom-up Proteomics Data
- 2018
-
Ingår i: Journal of biomolecular techniques : JBT. - : NLM (Medline). - 1943-4731 .- 1524-0215. ; 29:2, s. 39-45
-
Tidskriftsartikel (refereegranskat)abstract
- This report presents the results from the 2016 Association of Biomolecular Resource Facilities Proteome Informatics Research Group (iPRG) study on proteoform inference and false discovery rate (FDR) estimation from bottom-up proteomics data. For this study, 3 replicate Q Exactive Orbitrap liquid chromatography-tandom mass spectrometry datasets were generated from each of 4 Escherichia coli samples spiked with different equimolar mixtures of small recombinant proteins selected to mimic pairs of homologous proteins. Participants were given raw data and a sequence file and asked to identify the proteins and provide estimates on the FDR at the proteoform level. As part of this study, we tested a new submission system with a format validator running on a virtual private server (VPS) and allowed methods to be provided as executable R Markdown or IPython Notebooks. The task was perceived as difficult, and only eight unique submissions were received, although those who participated did well with no one method performing best on all samples. However, none of the submissions included a complete Markdown or Notebook, even though examples were provided. Future iPRG studies need to be more successful in promoting and encouraging participation. The VPS and submission validator easily scale to much larger numbers of participants in these types of studies. The unique "ground-truth" dataset for proteoform identification generated for this study is now available to the research community, as are the server-side scripts for validating and managing submissions.
|
|
| 10. |
- Payne, Matthew J., et al.
(författare)
-
Outward migration of terrestrial embryos in binary systems
- 2009
-
Ingår i: Monthly notices of the Royal Astronomical Society. - : WILEY-BLACKWELL PUBLISHING. - 0035-8711 .- 1365-2966. ; 400:4, s. 1936-1944
-
Tidskriftsartikel (refereegranskat)abstract
- We consider the formation and migration of protoplanetary embryos in discs around the stars in tight binary systems (separations of ~20au). In such systems, the initial stages of runaway embryo formation are expected to only take place within some critical disc radius acrit, due to the perturbing effect of the binary companions. We perform N-body simulations of the evolution of such a population of inner-disc embryos surrounded by an outer disc of smaller planetesimals. Taking Alpha Centauri-B as our fiducial reference example in which acrit ~ 0.7au, and using a Minimum Mass Nebular Model with Σ ~ a-3/2, we find that within 106yr (107yr), systems will on average contain embryos which have migrated out to 0.9au (1.2au), with the average outermost body having a mass of 0.2M⊕(0.4M⊕). Changes to increase the surface density of solids or to use a flatter profile both produce increased embryo migration and growth. At a given time, the relative change in the semimajor axis of the outermost embryo in these simulations is found to be essentially independent of acrit, and we note that little further embryo migration takes place beyond 107yr. We conclude that the suppression of runaway growth outside acrit does not mean that the habitable zones in such tight binary systems will be devoid of detectable, terrestrial mass planets, even if acrit lies significantly interior to the inner edge of the habitable zone.
|
|
