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It has been widely accepted that genome analysis has great potential to explain the causes of diseases and to eventually increase our quality of life. However, the current success is only the first step to achieving genuine future genome medicine. More evidence is still needed to support the clinical translation of the genomics studies. To overcome current hurdles and move one step toward the next generation of precision medicine, more research and evidence will be required. In this special issue of EMM, we present a collection of review articles on cutting edge topics in genomics and genome medicine.