Built from one of the world’s largest collections of epigenetic data, the newly developed model Sei predicts how DNA sequence variation alters gene expression, advancing our understanding of human traits, disease and evolution.
The launch of the Human Genome Project in 1990 was accompanied by the hope that, when completed, the resulting full human genome sequence would help build a Rosetta stone of sorts. A way to translate — or link — differences among humans to changes in the genes themselves.
As the project progressed, however, that hope diminished. The newly decoded genome revealed that just a tiny part of it — about 1 percent — was actually made up of genes. The remaining 99 percent was designated as noncoding regions, which soon became the new focus of genomics researchers. Scientists soon learned that the noncoding parts of the genome, once derided as ‘junk DNA,’ are rich with the potential to influence the genome’s coding region in important ways, even if they are devoid of genes themselves. But drawing an unequivocal line between a particular DNA sequence and the resulting trait or disease has proved a herculean task.