The resulting fully sequenced genome is now a resource that other scientists can use to springboard their own research, though it only represents a single example. Further study by the T2T Consortium along with the Human Pangenome Reference Consortium will build out more genome examples, called haplotypes, from a diverse range of samples, according to the published research.
This is another big step in enabling humans to sequence their individual genomes, which could drop in accessibility and cost to become a routine medical test that could run you under $1,000, study author Adam Phillippy, a genomicist with the National Institutes of Health, told CNN. In the meantime, scientists will be able to use the completed genome to investigate whether genetic variations are linked to particular cancers.
Even with this accomplishment, more work -- and deeper understanding -- lies ahead.
"We finished a genome. There will be hundreds, probably thousands of genomes over the next few years," Eichler said in a statement. "I think our view of how humans differ from each other is going to be transformed, and how more complex genetic variation is important not only for making us human, but also making us different."
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