How to design a national genomic project-a systematic review of active projects.

ABSTRACT: An increasing number of countries are investing efforts to exploit the human genome, in order to improve genetic diagnostics and to pave the way for the integration of precision medicine into health systems. The expected benefits include improved understanding of normal and pathological genomic variation, shorter time-to-diagnosis, cost-effective diagnostics, targeted prevention and treatment, and research advances.We review the 41 currently active individual national projects concerning their aims and scope, the number and age structure of included subjects, funding, data sharing goals and methods, and linkage with biobanks, medical data, and non-medical data (exposome). The main aims of ongoing projects were to determine normal genomic variation (90%), determine pathological genomic vari

SUBMITTER: Kovanda A 

PROVIDER: S-EPMC7988644 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature