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Sökning: WFRF:(Wessel Jan) > (2018)

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1.
  • Morana, Stefan, et al. (författare)
  • Tool Support for Design Science Research - Towards a Software Ecosystem : A Report from a DESRIST 2017 Workshop
  • 2018
  • Ingår i: Communications of the Association for Information Systems. - : Association for Information Systems. - 1529-3181. ; 43, s. 237-256
  • Tidskriftsartikel (refereegranskat)abstract
    • The information systems (IS) field contains a rich body of knowledge on approaches, methods, and frameworks that supports researchers in conducting design science research (DSR). It also contains some consensus about the key elements of DSR projects-such as problem identification, design, implementation, evaluation, and abstraction of design knowledge. Still, we lack any commonly accepted tools that address the needs of DSR scholars who seek to structure, manage, and present their projects. Indeed, DSR endeavors, which are often complex and multi-faceted in nature and involve various stakeholders (e.g., researchers, developers, practitioners, and others), require the support that such tools provide. Thus, to investigate the tools that DSR scholars actually need to effectively and efficiently perform their work, we conducted an open workshop with DSR scholars at the 2017 DESRIST conference in Karlsruhe, Germany, to debate 1) the general requirement categories of DSR tool support and 2) the more specific requirements. This paper reports on the results from this workshop. Specifically, we identify nine categories of requirements that fall into the three broad phases (pre-design, design, and post design) and that contribute to a software ecosystem for supporting DSR endeavors.
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2.
  • Turcot, Valerie, et al. (författare)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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