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Human genomics projects and precision medicine


The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialized goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine. The new precision (personalized) medicine, where genome sequencing and data analysis are essential components, allows tailored diagnosis and treatment according to the information from the patient’s own genome and specific environmental factors. P4 (predictive, preventive, personalized and participatory) medicine is introducing new concepts, challenges and opportunities. This review summarizes current sequencing technologies, concentrates on ongoing human genomics projects, and provides some examples in which precision medicine has already demonstrated clinical impact in diagnosis and/or treatment.

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We thank our Genomics and Next Generation Sequencing Service colleagues for their invaluable professional work, expertize and discussions. Without them this review could not have been written. We thank all the researchers (our ‘customers’) who place their trust on us and keep our motivation to continuously acquire new knowledge in this fascinating field. We also thank the reviewers for their constructive suggestions. We want to apologize to all those whom we have not cited in this review due to space constraints. The CBMSO receives institutional grants from the Fundación Ramón Areces and from the Fundación Banco de Santander.

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Correspondence to B Aguado.

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Carrasco-Ramiro, F., Peiró-Pastor, R. & Aguado, B. Human genomics projects and precision medicine. Gene Ther 24, 551–561 (2017).

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