New Genomic Technologies and Bioinformatics Resources for Precision Medicine
摘要
In 2014, the National Institutes of Health (NIH) launched the Trans-Omics for Precision Medicine (TOPMed) program ( https://topmed.nhlbi.nih.gov/ ) with the aim of improving the understanding of heart, lung, blood, and sleep disorders and ultimately advancing precision medicine by improving diagnosis, treatment, and prevention of these diseases. TOPMed has sequenced 53,831 samples and detected more than 400 million single-nucleotide and insertion or deletion variants. These genomic data together with analytical tools are increasingly becoming available online via controlled access. One example is BioData Catalyst ( https://biodatacatalyst.nhlbi.nih.gov/ ). Such bioinformatics resources have transformed the way biological and medical research is being undertaken with a shift from traditional observations and measurements to a dynamic process of generating and collecting high volumes of data, of different forms, that can only be handled computationally. From rapid DNA or RNA sequencing to gene expression, the era of omics technologies has brought a revolutionary instrument of change for scientific discoveries. New algorithms and computational tools enable the analysis of the new types of data, their processing, and interpretation leading to an exciting expansion of the volume of statistics for genomics in health. This chapter describes some of the technological innovations that have driven the adoption, albeit slow, of omics technologies in clinical settings and how they will increasingly adjust the way personalised medicine is implemented. Above all, a new approach to integrating genomic information for patients’ treatment is providing high hopes for many pathological conditions.