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Since the announcement of the first draft of the human genome over a decade ago, there has been unprecedented progress in high throughput technologies that advanced our understanding of the function of the genome and also to identify thousands of loci robustly associated with complex traits. However, the translation to actionable targets to improve the health of people has been much more challenging than anticipated.
Fueled by the successes of GWAS and the pervasive polygenic nature of many complex traits, meta-analyses of ever-increasing sample sizes are being carried out with many of the results becoming more readily accessible than the individual-level data. Close to million individual cohorts are being established such as UK Biobank, All of US, and others. This emphasizes the need to integrate massive amounts of genomic and phenotypic data to extract actionable knowledge and make them broadly accessible to the research community.
In this talk, I will present the results of the in-depth examination of the phenotypic consequences of transcriptome regulation and the resources we have created to facilitate access to the knowledge created by currently available datasets.
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