Implementing FAIR through a distributed data infrastructure

Within the research project LOD-GOESS (https://lod-geoss.gitub.io ) we are developing a distributed data architecture for sharing and improved discovery of research data in the domain of energy systems analysis. A central element is the databus (https://databus.dbpedia.org ) which acts as a central searchable metadata catalog. Research data can be registered to the databus. The metadata improves the findability of the data, direct links to the data sources accessibility. If the metadata is annotated with an ontology (e.g. the open energy ontology), semantic searches can be performed to find suitable research data. This improves interoperability and reusability of the data. Currently we are developing several demonstrators which show the benefit of open and transparent data handling for the publication of scenario data, model coupling and shared technology data bases. The infrastructure can also be used to track the provenance of data which is used in energy systems analysis. With our presentation we want to show how this infrastructure can be used to improve transparency and traceability of the analysis of future energy systems

The serotonin receptor 3E variant is a risk factor for female IBS-D

Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT3 receptor family. 5-HT3Rs are encoded by HTR3 genes and control GI function, and peristalsis and secretion, in particular. Moreover, 5-HT3R antagonists are beneficial in the treatment of diarrhea predominant IBS (IBS-D). We previously reported on functionally relevant SNPs in HTR3A c.-42C > T (rs1062613), HTR3C p.N163K (rs6766410), and HTR3E c.*76G > A (rs56109847 = rs62625044) being associated with IBS-D, and the HTR3B variant p.Y129S (rs1176744) was also described within the context of IBS. We performed a multi-center study to validate previous results and provide further evidence for the relevance of HTR3 genes in IBS pathogenesis. Therefore, genotype data of 2682 IBS patients and 9650 controls from 14 cohorts (Chile, Germany (2), Greece, Ireland, Spain, Sweden (2), the UK (3), and the USA (3)) were taken into account. Subsequent meta-analysis confirmed HTR3E c.*76G > A (rs56109847 = rs62625044) to be associated with female IBS-D (OR = 1.58; 95% CI (1.18, 2.12)). Complementary expression studies of four GI regions (jejunum, ileum, colon, sigmoid colon) of 66 IBS patients and 42 controls revealed only HTR3E to be robustly expressed. On top, HTR3E transcript levels were significantly reduced in the sigma of IBS patients (p = 0.0187); more specifically, in those diagnosed with IBS-D (p = 0.0145). In conclusion, meta-analysis confirmed rs56109847 = rs62625044 as a risk factor for female IBS-D. Expression analysis revealed reduced HTR3E levels in the sigmoid colon of IBS-D patients, which underlines the relevance of HTR3E in the pathogenesis of IBS-D

The serotonin receptor 3E variant is a risk factor for female IBS-D

Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT receptor family. 5-HT Rs are encoded by HTR3 genes and control GI function, and peristalsis and secretion, in particular. Moreover, 5-HT R antagonists are beneficial in the treatment of diarrhea predominant IBS (IBS-D). We previously reported on functionally relevant SNPs in HTR3A c.-42C > T (rs1062613), HTR3C p.N163K (rs6766410), and HTR3E c.*76G > A (rs56109847 = rs62625044) being associated with IBS-D, and the HTR3B variant p.Y129S (rs1176744) was also described within the context of IBS. We performed a multi-center study to validate previous results and provide further evidence for the relevance of HTR3 genes in IBS pathogenesis. Therefore, genotype data of 2682 IBS patients and 9650 controls from 14 cohorts (Chile, Germany (2), Greece, Ireland, Spain, Sweden (2), the UK (3), and the USA (3)) were taken into account. Subsequent meta-analysis confirmed HTR3E c.*76G > A (rs56109847 = rs62625044) to be associated with female IBS-D (OR = 1.58; 95% CI (1.18, 2.12)). Complementary expression studies of four GI regions (jejunum, ileum, colon, sigmoid colon) of 66 IBS patients and 42 controls revealed only HTR3E to be robustly expressed. On top, HTR3E transcript levels were significantly reduced in the sigma of IBS patients (p = 0.0187); more specifically, in those diagnosed with IBS-D (p = 0.0145). In conclusion, meta-analysis confirmed rs56109847 = rs62625044 as a risk factor for female IBS-D. Expression analysis revealed reduced HTR3E levels in the sigmoid colon of IBS-D patients, which underlines the relevance of HTR3E in the pathogenesis of IBS-D. [Abstract copyright: © 2022. The Author(s).

Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Funder: Kennedy Trust Rheumatology Research Prize StudentshipFunder: DFG Cluster of Excellence “Precision Medicine in Chronic In-flammation” (PMI; ID: EXC2167)Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: “Ideas” Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): 715772Funder: NWO-VIDI grant 016.178.056, the Netherlands Heart Foundation CVON grant 2018-27, and NWO Gravitation grant ExposomeNLFunder: Li Ka Shing Foundation (Li Ka Shing Foundation Limited); doi: https://doi.org/10.13039/100007421Abstract: Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain–gut interactions underlying IBS

Rezension: Susanne Fuß & Ute Karbach (2014). Grundlagen der Transkription: eine praktische Einführung

Die Autorinnen Susanne Fuß und Ute Karbach haben wiederkehrende Fragen gebündelt, die ihnen im Laufe ihrer Praxistätigkeit sowohl als Transkribierende als auch als Lehrende begegnet sind. Diese haben sie mit den 2014 erschienenen "Grundlagen der Transkription" fachgerecht aufbereitet. In neun nicht zwingend aufeinander aufbauenden Kapiteln stellen sie einen gut fundierten Überblick über die wichtigsten Aspekte (sozial-) wissenschaftlicher Transkriptionsprozesse dar. Dazu haben sie ein modulares System an Regeln erarbeitet und bieten damit Hilfestellung vor allem für wissenschaftliches Personal und Studierende, die neu auf diesem Gebiet sind. Eher erfahrenen Lesenden wird dieses Werk wenig neue Erkenntnisse vermitteln, allerdings bietet es eine sehr gute modulare Strukturierung methodischer Entscheidungen im Transkriptionsprozess. Über die behandelten Themen hinaus werden keine weiterführenden Literaturverweise gegeben. Das Buch liefert eine klare Gliederung der behandelten Grundaspekte, eine verständliche Ausdrucksweise und aufgrund der vielen Beispiele einen guten Einstieg ins Thema. Für zukünftige Auflagen wären Ergänzungen zu damit verbundenen Bereichen wie z.B. der Interviewführung und eine stärkere Einbettung in den sozialwissenschaftlichen Methodendiskurs wünschenswert. Auch der Blick über den deutschsprachigen Diskurs könnte kommende Auflagen um wichtige Aspekte erweitern. (Autorenreferat)In "Grundlagen der Transkription" ["Basics of Transcription"], published in 2014, Susanne Fuß and Ute Karbach have gathered and analyzed recurring questions encountered in the course of their work in lecturing and transcription. Over nine chapters, which can be read in any order, they present an informed overview of the most important aspects of the transcription process in the (social) sciences. The authors have also developed a modular system of rules for transcribing. By structuring methodical decisions within the process of transcription, they are primarily offering support for scientific personnel and students new to this field. For more experienced readers, this work will provide little new insight. The book gives no references for further reading, but delivers a clear arrangement of the topic's fundamental aspects in a style that is easily understood, along with many examples. For future editions, additional material concerning associated areas -such as how to conduct interviews, as well as a stronger grounding in the discourse of techniques used in the social sciences- would be desirable. Future editions could also benefit from a look at salient aspects that go beyond the German- speaking discourse and application, as well as references to the methodical implications and possible consequences of the choice of transcription rules on the following process of interpretation. (author's abstract

Reseña: Susanne Fuß & Ute Karbach (2014). Grundlagen der Transkription. Eine praktische Einführung [Fundamentos de la transcripción. Una introducción práctica]

Die Autorinnen Susanne FUẞ und Ute KARBACH haben wiederkehrende Fragen gebündelt, die ihnen im Laufe ihrer Praxistätigkeit sowohl als Transkribierende als auch als Lehrende begegnet sind. Diese haben sie mit den 2014 erschienenen "Grundlagen der Transkription" fachgerecht aufbereitet. In neun nicht zwingend aufeinander aufbauenden Kapiteln stellen sie einen gut fundierten Überblick über die wichtigsten Aspekte (sozial-) wissenschaftlicher Transkriptionsprozesse dar. Dazu haben sie ein modulares System an Regeln erarbeitet und bieten damit Hilfestellung vor allem für wissenschaftliches Personal und Studierende, die neu auf diesem Gebiet sind. Eher erfahrenen Lesenden wird dieses Werk wenig neue Erkenntnisse vermitteln, allerdings bietet es eine sehr gute modulare Strukturierung methodischer Entscheidungen im Transkriptionsprozess. Über die behandelten Themen hinaus werden keine weiterführenden Literaturverweise gegeben. Das Buch liefert eine klare Gliederung der behandelten Grundaspekte, eine verständliche Ausdrucksweise und aufgrund der vielen Beispiele einen guten Einstieg ins Thema. Für zukünftige Auflagen wären Ergänzungen zu damit verbundenen Bereichen wie z.B. der Interviewführung und eine stärkere Einbettung in den sozialwissenschaftlichen Methodendiskurs wünschenswert. Auch der Blick über den deutschsprachigen Diskurs könnte kommende Auflagen um wichtige Aspekte erweitern.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1602217In "Grundlagen der Transkription" ["Basics of Transcription"], published in 2014, Susanne FUß and Ute KARBACH have gathered and analyzed recurring questions encountered in the course of their work in lecturing and transcription. Over nine chapters, which can be read in any order, they present an informed overview of the most important aspects of the transcription process in the (social) sciences. The authors have also developed a modular system of rules for transcribing. By structuring methodical decisions within the process of transcription, they are primarily offering support for scientific personnel and students new to this field. For more experienced readers, this work will provide little new insight. The book gives no references for further reading, but delivers a clear arrangement of the topic’s fundamental aspects in a style that is easily understood, along with many examples. For future editions, additional material concerning associated areas—such as how to conduct interviews, as well as a stronger grounding in the discourse of techniques used in the social sciences—would be desirable. Future editions could also benefit from a look at salient aspects that go beyond the German-speaking discourse and application, as well as references to the methodical implications and possible consequences of the choice of transcription rules on the following process of interpretation.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1602217En "Grundlagen der Transkription" [Fundamentos de la transcripción], publicado en 2014, Susanne FUß y Ute KARBACH se han reunido y han analizado las preguntas recurrentes encontradas en el curso de su trabajo de lectura y transcripción. A lo largo de nueve capítulos, que se pueden leer en cualquier orden, presentan una visión general fundamentada de los aspectos más importantes del proceso de transcripción en las ciencias (sociales). Los autores también han desarrollado un sistema modular de reglas para la transcripción. Al estructurar las decisiones metodológicas en el proceso de transcripción, ofrecen principalmente apoyo al personal científico y a los estudiantes nuevos en este campo. Para los lectores más experimentados, este trabajo proporcionará escasamente una nueva visión. El libro no da referencias de lecturas adicionales, pero ofrece una disposición clara de los aspectos fundamentales del tema en un estilo que es fácil de entender, junto con muchos ejemplos. Para las ediciones futuras, material adicional relativo a áreas asociadas – tales como la forma de realizar las entrevistas, así como una base más fuerte en el discurso de las técnicas utilizadas en las ciencias sociales – serían deseables. Las ediciones futuras podrían también beneficiarse de una mirada a los aspectos más destacados que van más allá del discurso y la aplicación de habla alemana, así como referencias a las implicaciones metodológicas y las posibles consecuencias de la elección de las reglas de transcripción en el siguiente proceso de interpretación.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs160221