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Sökning: WFRF:(Kurg A) > (2015-2019)

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1.
  • Sauk, M, et al. (författare)
  • NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
  • 2018
  • Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1, s. 5616-
  • Tidskriftsartikel (refereegranskat)abstract
    • Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool – NIPTmer – is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts. Additionally, the filtering process used for k-mer list creation allows one to take into account the genetic variance in a specific sample, thus reducing the source of uncertainty. The processing time of one sample is less than 10 CPU-minutes on a high-end workstation. NIPTmer was validated on a cohort of 583 NIPT samples and it correctly predicted 37 non-mosaic fetal aneuploidies. NIPTmer has the potential to reduce significantly the time and complexity of NIPT post-sequencing analysis compared to mapping-based methods. For non-commercial users the software package is freely available at http://bioinfo.ut.ee/NIPTMer/.
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4.
  • Hochhausl, Sophie, et al. (författare)
  • Architecture and the Environment
  • 2018
  • Ingår i: Architectural Histories. - : Open Library of the Humanities. - 2050-5833. ; 6:1
  • Tidskriftsartikel (refereegranskat)abstract
    • These Field Notes, on the topic of Architecture and the Environment, elucidate how problems raised in the environmental humanities have informed architectural history, and in turn, what architectural history has to contribute to this emerging field. The short essays explore specific 'positions' in the overarching debate, identifying a radical return to critical theory and the embrace of the fundamentally transdisciplinary nature of environmental humanities and architectural history. While the positions advocate for a serious investigation of architects' texts and ideas on environmental issues, the collection also champions a broader engagement with Anthropocene questions and proposes to adopt the environment as an intellectual perspective from which to look upon the world.
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