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Träfflista för sökning "WFRF:(Thum T) srt2:(2020-2023)"

Search: WFRF:(Thum T) > (2020-2023)

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  • Thum, T., et al. (author)
  • Towards Efficient Analysis of Variation in Time and Space
  • 2020
  • In: SPLC '19: Proceedings of the 23rd International Systems and Software Product Line Conference - Volume B. pp. 57–64. - New York, NY, USA : ACM. - 9781450366687
  • Conference paper (peer-reviewed)abstract
    • Variation is central to today's software development. There are two fundamental dimensions to variation: Variation in time refers to the fact that software exists in numerous revisions that typically replace each other (i.e., a newer version supersedes an older one). Variation in space refers to differences among variants that are designed to coexist in parallel. There are numerous analyses to cope with variation in space (i.e., product-line analyses) and others that cope with variation in time (i.e., regression analyses). The goal of this work is to discuss to which extent product-line analyses can be applied to revisions and, conversely, where regression analyses can be applied to variants. In addition, we discuss challenges related to the combination of product-line and regression analyses. The overall goal is to increase the efficiency of analyses by exploiting the inherent commonality between variants and revisions.
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  • Arbustini, E, et al. (author)
  • Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics
  • 2022
  • In: European heart journal. - : Oxford University Press (OUP). - 1522-9645 .- 0195-668X. ; 43:20, s. 1901-
  • Journal article (peer-reviewed)abstract
    • This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.
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