Use of Beacon v2 for Improving Genomics Based Research in a Clinical Setting.
Stud Health Technol Inform
; 316: 1243-1247, 2024 Aug 22.
Article
in En
| MEDLINE
| ID: mdl-39176606
ABSTRACT
GA4GH has proposed the Beacon architecture as an interface to retrieve genomic information which also protects the privacy of the individuals. In this paper, we propose to adapt the Beacon Reference Implementation to the use case of a study comparing the susceptibility to the carcinogenic effects of tobacco. This analysis compares the germline of heavy smokers who have either never developed lung cancer or, on the contrary, have developed it at a young age. To adapt the Beacon Reference Implementation to the use case, we have added filtering capabilities and a new grouping of information allowing to retrieve the data by affected gene.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genomics
/
Lung Neoplasms
Limits:
Humans
Language:
En
Journal:
Stud Health Technol Inform
Journal subject:
INFORMATICA MEDICA
/
PESQUISA EM SERVICOS DE SAUDE
Year:
2024
Document type:
Article
Affiliation country: