July 30 - 31 | Tokyo, Japan
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Tuesday, July 30 • 13:25 - 13:30
Elevator Track: BGI Blockchain Application – To Co-build a Database of Interpretation Standards for Genetic Variation - Yuantong Ding, BGI

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Genetic variation is the difference in DNA sequences between individuals within a population and it is closely related to disease and health status. Accurate interpretation of the clinical relevance of each genetic variation depends on the aggregation of a large amount of population genetic and phenotypic data. However, currently such data are often isolated and owned by different hospitals, companies or organizations. And the sensitivity of genetic data, privacy protection compliance risk, inconsistency between test and interpretation protocols, difficulties in data ownership protection and supervision are all barriers for efficient data sharing and mining.

Here we provide a solution to this problem and present a demo for breast cancer genetic variation interpretation as a showcase application. We build a distributed consortium network through blockchain, cryptography and other technologies, with the endorsement of authoritative credit units as the central authentication node and joint-efforts from related parties. Our system insured that all data, interpretation conflicts and resolving history are open, traceable, tamper-proof, meeting necessary ethical and regulatory requirements, auditable and regulated, thus can provide solid scientific support for the consensus interpretation and clinical validity of genetic variation. Furthermore, our database can be easily expended to the interpretation of thousands of cancer susceptible gene variants, promoting the value of multi-party joint mining of genetic big data, and greatly driving innovation in related fields.

Tuesday July 30, 2019 13:25 - 13:30 JST
Hall A, Station B