The outbreak of the COVID-19 epidemic has focused enormous attention on the genetics of viral infection and related disease. Since the beginning of the pandemic, we focused on the collection and integration of SARS-CoV-2 databases, which contain information on the structure of the virus and on its ability to spread, mutate, and evolve; data are made available from several open-source databases. In the past, we gathered experience on human genomics data by building models and integrated databases of genomic datasets (representing, e.g., mutations, gene expression profiles, epigenetic signals). We also coordinated the development of a data dictionary describing the clinical phenotype of the COVID19 disease, in the context of a very large consortium. The main objective of this paper is to describe the content of the data dictionary and the process of data collection and organization. We also argue that—in the context of the COVID-19 disease—interoperability between the three domains of viral genomics, clinical phenotype, and human host genomics is essential for empowering important analysis processes and results. We call for actions that could be performed to link these data.
Interoperability of COVID-19 Clinical Phenotype Data with Host and Viral Genetics Data
Bernasconi, Anna;Ceri, Stefano
2022-01-01
Abstract
The outbreak of the COVID-19 epidemic has focused enormous attention on the genetics of viral infection and related disease. Since the beginning of the pandemic, we focused on the collection and integration of SARS-CoV-2 databases, which contain information on the structure of the virus and on its ability to spread, mutate, and evolve; data are made available from several open-source databases. In the past, we gathered experience on human genomics data by building models and integrated databases of genomic datasets (representing, e.g., mutations, gene expression profiles, epigenetic signals). We also coordinated the development of a data dictionary describing the clinical phenotype of the COVID19 disease, in the context of a very large consortium. The main objective of this paper is to describe the content of the data dictionary and the process of data collection and organization. We also argue that—in the context of the COVID-19 disease—interoperability between the three domains of viral genomics, clinical phenotype, and human host genomics is essential for empowering important analysis processes and results. We call for actions that could be performed to link these data.File | Dimensione | Formato | |
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