| Autor: |
Johansson, Lennart, Been, Gerieke, Michie, Alex, Binsl, Thomas |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| DOI: |
10.5281/zenodo.7925804 |
| Popis: |
D5.3 demonstrates tying together the technical ideas and research developed in CINECA into accessible, end-user applications - removing the need to have deep technical understanding of the various components. In this case the tools are applied to identifying pathological - and thus clinically-relevant - variants. This deliverable shows the final steps in the application of the CINECA tools where the relevant datasets have been discovered and combined using CINECA federated tools to generate a larger variant database to drive more accurate conclusions. Additionally, variant databases could be created and validated that are more tuned to diagnostics in non-caucasian populations that have historically been under-represented in reference data - a problem that tools such as those developed in CINECA/GA4GH would hope to reduce in future. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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