Thanks to genome-wide association studies (aka GWAS), scientists have identified tens of thousands of links between small, common variations in the genome called SNPs (single nucleotide polymorphisms) and human traits or disease. The question today is: How do we put all these data to use to impact human health and advance our understanding of human biology?
In this video, population geneticist Alicia Martin provides a brief primer on GWAS, and explain how gaps in the diversity of the data available today affect how researchers make use of the data now and in the future. Cardiologist Amit Khera discusses polygenic scoring, a method that integrates information from millions of SNPs to predict an individual's likelihood of developing a given disease. And cancer biologist JT Neal talks about the challenges of studying the functional roles of the thousands of SNPs associated with disease, the genes and pathways they affect, the cells they impact — and doing it all at massive scale.