Speaker: Bing Ren

Title: Functional Annotation of the Human Genome


The genome of each person differs from one another at millions of nucleotides, and these sequence variants together are responsible for the spectrum of phenotypic traits and disease risks of that individual. While it has become commonplace these days to sequence one’s genome, predicting the specific phenotypic traits of each individual from DNA still seems an insurmountable challenge. This is because over 98% of the human genome is non-protein-coding and generally without a clearly defined biological function. In particular, scattered in these noncoding sequences are millions of putative cis-regulatory elements responsible for spatiotemporal gene expression during development. Furthermore, a large number of sequence variants in the cisregulatory elements are believed to confer risks to various common human diseases. Therefore, identifying and characterizing the cis-regulatory elements in the human genome have the potential to significantly enhance our ability to link DNA variations to phenotypic traits. Thanks to the development of high-throughput technologies, hundreds of thousands of candidate enhancers have been annotated in the human genome, compromising at least 12% of the total DNA sequences. Recent experiments have suggested a role for the three-dimensional chromatin architecture in regulation of gene expression by distal cis elements. The presentation will discuss ongoing research in this area and future challenges in the context of precision medicine initiative.