Use of Beacon v2 for Improving Genomics Based Research in a Clinical Setting.

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.