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Sökning: WFRF:(Sahin Hatice)

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1.
  • Sahin, Hatice, et al. (författare)
  • Workshop on Prosocial Behavior in Future Mixed Traffic
  • 2021
  • Ingår i: Adjunct Proceedings. - New York, NY, USA : Association for Computing Machinery (ACM). ; , s. 167-170
  • Konferensbidrag (refereegranskat)abstract
    • Prosocial Behaviorĝmeans cooperating and acting in a way to benefit others. Since more and more diverse road users (such as electronic bicycles, scooters, etc.) but also vehicles at different levels of automation are sharing the safety-critical road environment, acting prosocial will become increasingly important in the future for both human and automated traffic participants. A few papers so far have already begun to address this issue, but currently, there exist no systematic methodological approaches to research this area. In the proposed workshop, we plan to define more specifically what characterizes prosocial behavior in future traffic scenarios where automated and manual vehicles meet and interact with all kinds of vulnerable road users. We further want to identify important scenarios and discuss potential evaluation methods for researching prosocial behavior. Ultimately, these findings will be integrated into a research agenda actively pursued by cooperation initiated during this event.
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2.
  • Walsh, Roddy, et al. (författare)
  • Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
  • 2021
  • Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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