Scientists have been using the same human genome sequence to do genomic studies for over 20 years, but a major change was made to the genome sequence a while ago. Researchers have largely reconstructed the original reference genome sequence.
READING NOW The human genome used to study diseases has undergone major change
Reference human genome modified
The new pangenome reference includes the genome sequences of 47 individuals from around the world, according to the peer-reviewed article published in the journal Nature. The original reference human genome sequence was generally based on a single individual, although it contained components from a total of about 20 individuals.
Disease research will be easier
“By improving our understanding of the link between a pangenome reference and genes and disease traits, we can accelerate clinical research,” Wen-Wei Liao, author of the paper, said in a statement. Pangenome uses advanced computational techniques to align whole genome sequences. These techniques help fill in the gaps left by the original reference by adding more than 100 million new DNA letters, the statement said. “The human pangenome reference will allow us to represent tens of thousands of new genomic variants in previously inaccessible regions of the genome,” Liao said. The research was led by scientists at the Human Pangenome Reference Consortium, funded by a division of the National Institutes of Health.
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