Twenty years after the first human genome sequence was published, an international research team has kicked the sequencing game to the next level with a set of 64 reference genomes that reflect much higher resolution and more genetic diversity.
Since the Human Genome Project completed the first draft of its reference genome in 2001, decoding the human genetic code has been transformed from a multibillion-dollar endeavor into a relatively inexpensive commercial service. However, commercial whole-genome sequencing, or WGS, often misses out on crucial variations that can make all the difference when it comes to an individual’s health.
“As a metric, 75% of structural variants that are present in that person’s genome are missed by WGS, but are captured by our long-read phased genome assembly,” University of Washington genome scientist Evan Eichler told me in an email. “Such variants are about three times more likely to cause disease.”
Eichler, who was a member of the original Human Genome Project, is one of the senior authors of a study laying out the new set of reference genomes, published today by the journal Science.