""Whenever we sequence a human individual, we get about 3.5 million variants, and only 0.6% of those will be in coding regions. We really don't understand what it's doing - we don't have a regulatory code.""
""It's reducing it down to this synthetic system, but you're still maintaining enough complexity to probe [genomic] space that we don't fully understand, and that's kind of the sweet spot.""
The genome consists of protein-coding genes and a vast majority of non-coding regions, which remain largely unexplained. Only 0.6% of genetic variants are in coding regions, making interpretation challenging. Researchers are advancing in understanding regulatory regions through massively parallel reporter assays (MPRAs), which help identify how genetic elements influence gene expression. MPRAs can clarify disease genetics, evolutionary changes, and guide therapeutic development, potentially aiding in the design of genetic circuits for various applications.
Read at Nature
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