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Sökning: WFRF:(Viklund S. B.)

  • Resultat 1-7 av 7
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  • Ameur, Adam, et al. (författare)
  • SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
  • 2017
  • Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
  • Tidskriftsartikel (refereegranskat)abstract
    • Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
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  • Karlsson, Jenny, et al. (författare)
  • Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:7, s. 944-950
  • Tidskriftsartikel (refereegranskat)abstract
    • A major challenge to personalized oncology is that driver mutations vary among cancer cells inhabiting the same tumor. Whether this reflects principally disparate patterns of Darwinian evolution in different tumor regions has remained unexplored1–5. We mapped the prevalence of genetically distinct clones over 250 regions in 54 childhood cancers. This showed that primary tumors can simultaneously follow up to four evolutionary trajectories over different anatomic areas. The most common pattern consists of subclones with very few mutations confined to a single tumor region. The second most common is a stable coexistence, over vast areas, of clones characterized by changes in chromosome numbers. This is contrasted by a third, less frequent, pattern where a clone with driver mutations or structural chromosome rearrangements emerges through a clonal sweep to dominate an anatomical region. The fourth and rarest pattern is the local emergence of a myriad of clones with TP53 inactivation. Death from disease was limited to tumors exhibiting the two last, most dynamic patterns.
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4.
  • Ljungkvist, Göran, 1949, et al. (författare)
  • Two techniques to sample non-volatiles in breath-exemplified by methadone.
  • 2018
  • Ingår i: Journal of breath research. - 1752-7163. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The particles in exhaled breath provide a promising matrix for the monitoring of pathological processes in the airways, and also allow exposure to exogenous compounds to be to assessed. The collection is easy to perform and is non-invasive. The aim of the present study is to assess if an exogenous compound-methadone-is distributed in the lining fluid of small airways, and to compare two methods for collecting methadone in particles in exhaled breath. Exhaled particles were collected from 13 subjects receiving methadone maintenance treatment. Two different sampling methods were applied: one based on electret filtration, potentially collecting exhaled particles of all sizes, and one based on impaction, collecting particles in the size range of 0.5-7 μm, known to reflect the respiratory tract lining fluid from the small airways. The collected samples were analyzed by liquid chromatography mass spectrometry, and the impact of different breathing patterns was also investigated. The potential contribution from the oral cavity was investigated by rinsing the mouth with a codeine solution, followed by codeine analysis of the collected exhaled particles by both sampling methods. The results showed that methadone was present in all samples using both methods, but when using the method based on impaction, the concentration of methadone in exhaled breath was less than 1% of the concentration collected by the method based on filtration. Optimizing the breathing pattern to retrieve particles from small airways did not increase the amount of exhaled methadone collected by the filtration method. The contamination from codeine present in the oral cavity was only detected in samples collected by the impaction method. We conclude that methadone is distributed in the respiratory tract lining fluid of small airways. The samples collected by the filtration method most likely contained a contribution from the upper airways/oral fluid in contrast to the impaction method.
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5.
  • Andersson, Viktor, 1983, et al. (författare)
  • Algae-based biofuel production as part of an industrial cluster
  • 2014
  • Ingår i: Biomass and Bioenergy. - : Elsevier. - 0961-9534 .- 1873-2909. ; 71, s. 113-124
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper presents a study on the production of biofuels from algae cultivated in municipal wastewater in Gothenburg, Sweden. A possible biorefinery concept is studied based on two cases; Case A) combined biodiesel and biogas production, and Case B) only biogas production. The cases are compared in terms of product outputs and impact on global CO2 emissions mitigation. The area efficiency of the algae-based biofuels is also compared with other biofuel production routes. The study investigates the collaboration between an algae cultivation, biofuel production processes, a wastewater treatment plant and an industrial cluster for the purpose of utilizing material flows and industrial excess heat between the actors. This collaboration provides the opportunity to reduce the CO2 emissions from the process compared to a stand-alone operation. The results show that Case A is advantageous to Case B with respect to all studied factors. It is found that the algae-based biofuel production routes investigated in this study has higher area efficiency than other biofuel production routes. The amount of algae-based biofuel possible to produce corresponds to 31 MWfuel for Case A and 26 MWfuel in Case B.
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