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Human genome sequencing rises to the next level of diversity…

Genome and globe

The new reference dataset includes 64 assembled genomes representing 25 different human populations from around the globe. (Getty Images via Univ. of Washington)

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 to 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 GeekWire 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.

“Each of these individual genomes is being resolved more completely, for a fraction of the price of the first human genome,” he said in a news release. “We are discovering remarkable differences in genomic organization which have been missed until now.”