A5033661263- Genomics and Rare Diseases
- Research Data Management Practices
- Advanced Materials Characterization Techniques
- Technology Assessment and Management
- Neurological disorders and treatments
- Digital Innovation in Industries
- Data Quality and Management
- Connexins and lens biology
- Scientific Computing and Data Management
- Cancer Genomics and Diagnostics
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- dental development and anomalies
- Genetic Neurodegenerative Diseases
- Electron and X-Ray Spectroscopy Techniques
- Bone and Dental Protein Studies
- Analytical chemistry methods development
University of Leicester
2021-2024
Abstract Improving patient care and advancing scientific discovery requires responsible sharing of research data, healthcare records, biosamples, biomedical resources that must also respect applicable use conditions. Defining a standard to structure manage these conditions is complex challenging task. This exemplified by near unlimited range asset types, high variability conditions, differing applications at the individual or collective level. Furthermore, specifics granularity required are...
Abstract Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying need for standardised yet flexible ways to digitally represent diverse ‘use conditions’. We report a core lexicon terms that are atomic, non-directional ‘concepts use’, called Common Conditions use Elements. This work engaged biobanks registries relevant European Joint Programme Rare Diseases aimed produce would have generalised utility. Seventy-six concepts were initially...
by clinical sites of to the RD-Connect Genome-Phenome Analysis Platform.Genomic data were processed and filtered as detailed [5].The Solve-RD SNV/Indel working group reported back 74,456 variants in Members Solve-RD-DITF-RND The Consortium are listed below Acknowledgements.
Summary form only given as follows. An internal component supplier faces a difficult challenge in selecting its R&D priority projects. We describe multi-attribute model and interview process that was used to restructure the priorities of an group. The analysis led reduced emphasis on new products placed increased value improvements.