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The openEHR Genomics Project.

Authors: Cecilia Mascia; Francesca Frexia; Paolo Uva; Gianluigi Zanetti; Luca Pireddu; Gideon Giacomelli; Christina Jaeger-Schmidt; +6 Authors

The openEHR Genomics Project.

Abstract

Current high-throughput sequencing technologies allow us to acquire entire genomes in a very short time and at a relatively sustainable cost, thus resulting in an increasing diffusion of genetic test capabilities, in specialized clinical laboratories and research centers. In contrast, it is still limited the impact of genomic information on clinical decisions, as an effective interpretation is a challenging task. From the technological point of view, genomic data are big in size, have a complex granular nature and strongly depend on the computational steps of the generation and processing workflows. This article introduces our work to create the openEHR Genomic Project and the set of genomic information models we developed to catch such complex structure and to preserve data provenance efficiently in a machine-readable format. The models support clinical actionability of data, by improving their quality, fostering interoperability and laying the basis for re-usability.

Related Organizations
Keywords

Electronic Health Records, Genetic Testing, Genomics, Workflow

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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