The openEHR Genomics Project.
Stud Health Technol Inform
; 270: 443-447, 2020 Jun 16.
Article
em En
| MEDLINE
| ID: mdl-32570423
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genômica
/
Registros Eletrônicos de Saúde
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Stud Health Technol Inform
Assunto da revista:
INFORMATICA MEDICA
/
PESQUISA EM SERVICOS DE SAUDE
Ano de publicação:
2020
Tipo de documento:
Article