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- Ask, Maria, et al.
(författare)
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The Innovative Exploration Drilling and Data Acquisition Research School
- 2021
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Ingår i: NSG2021 27th European Meeting of Environmental and Engineering Geophysics. - : European Association of Geoscientists and Engineers.
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Konferensbidrag (refereegranskat)abstract
- The Innovative Exploration Drilling and Data Acquisition Research School (I-EDDA-RS) is aimed at educating emerging scientists and engineers in on-site drilling and geoscientific investigation technology for mining. I-EDDA-RS consists if a consortium of scientists and specialists from six universities and research institutes in Germany and Sweden. A central component of the research school is that the courses have hands-on components at drill sites, boreholes and repositories. In addition, a course on entrepreneurial skills required in the exploration industry is also included in I-EDDA-RS. The arrival of the Covid-19 pandemic resulted in altered plans. Instead of offering ten courses with strong field work, practical, and entrepreneurial components during 2020, four courses via distant learning were offered. While this was disappointing in many aspects, two of the courses attracted a larger group of students from a wider part of the world than original envisioned. Outreach via on-line and open webinars is also a route to explore, as a complement to meetings and conferences in real life. The I-EDDA-RS courses in 2021 welcomes students at MSc & PhD level, as well as experienced professionals for lifelong learning (c.f. https://www.iedda.eu/rs). The form and type of teaching is to be determined.
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- Laurie, Steven, et al.
(författare)
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The RD-Connect Genome-Phenome Analysis Platform : Accelerating diagnosis, research, and gene discovery for rare diseases
- 2022
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:6, s. 717-733
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Tidskriftsartikel (refereegranskat)abstract
- Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.
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