Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions

The Concept and Development of AGH Geoportal

W niniejszej pracy omówione zostaną szczegółowo etapy projektowania i implementacji „Geoportalu AGH”. Pierwsza część artykułu dotyczy idei, a także opisu prac przygotowawczych i projektowych Systemu. Następnie omówiony został proces pozyskiwania danych przestrzennych i opisowych, które były podstawą do utworzenia wektorowego modelu kampusu AGH. Szczególną uwagę poświęcono również bazie danych, przedstawiając jej strukturę i rozwiązania pozwalające na jej integrację z systemami przechowywania danych osobowych. W pracy przedstawiona została również metodyka tworzenia sieci dróg w przestrzeni trójwymiarowej, stanowiącej jedno z narzędzi udostępnianych w sieci, wraz z opisem działania na serwerze. Ponadto szczegółowo opisany został projekt aplikacji typu WebGIS, stanowiącej warstwę prezentacji Geoportalu, utworzony przy użyciu technologii ArcGIS API for Silverlight. Na koniec przedstawione zostaną plany dotyczące wdrożenia nowych funkcjonalności, o które ma zostać rozbudowany serwis.In this paper we present stages of design and implementation of Geoportal AGH for the AGH University of Science and Technology. First part of the paper relates to the idea of the project and description of the system design. Next, we discuss the process of acquiring spatial data and descriptive data, which provided the basis for creation of a vector model of AGH campus. Particular attention was also devoted to the database structure and solutions allowing its integration with personal data storage systems. The paper also presents methodology of creating a network of roads in three-dimensional space, which is one of the tools available in the internet together with the operation instructions. In addition, a design of WebGIS application is described, constituting a layer of Geoportal presentation, created with the use of ArcGIS API for Silverlight. Finally, we discuss future plans of implementation of new functionalities to extend our services

Determining cancer survivors' preferences to inform new models of follow-up care

We wish to acknowledge the time taken by our participants in the study. We also thank: Amanda Cardy of the Scottish Primary Care Research Network who assisted MPM in administering the questionnaire mailings; Mrs Hazel Riley, CAPC, University of Aberdeen, who assisted MPM with data entry; Drs Graham Macdonald, Marianne Nicolson, Leslie Samuel and Radha Todd, cancer specialists working at Aberdeen Royal Infirmary, who supported us by generating lists of their clinic attendees and screening the lists of potential recipients; Dr Verity Watson, HERU, University of Aberdeen who provided advice and support to MPM in the conduct of the analysis.Peer reviewedPostprin

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions.</p

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions.status: publishe