Grant: Project Grant

The human genome was sequenced 20 years ago, but it remains extremely difficult to decode exactly how it works. Traditionally, the primary focus has been on understanding the protein coding sequences, which represent roughly 1% of the human genome. Genomic approaches over the last two decades have also underscored the importance of regulatory sequence, which represents another ~5-10% of the genome. Entire genes, however - including their non-coding components - encompass roughly 30% of the genome. Here, we will study how the identity and function of entire genes is determined by cells, using only the gene sequences. In addition to providing basic knowledge, this endeavor will be instrumental in determining how sequence variations - which are present in all individuals, as a consequence of random effects - impact the function of genes and thus human phenotypes.