The human genome used to study diseases has undergone major change

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 published a new, more inclusive collection of reference human genome sequences in landmark development that greatly expands the original reference genome sequence.

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.

Because the new pangenome better reflects the global gene pool, scientists will be able to use it to more accurately identify disease-related genetic variations. The more diverse reference map will also eventually be used to help develop more personalized vaccines or treatments tailored to the individual’s DNA, according to the researchers.

Disease research will be easier

The genome can be summarized as the complete set of DNA instructions necessary for an organism to grow and function. Scientists rely on a reference human genome to create a “standard” they can use to study the variations that make humans unique. On average, people’s genomes are about 99 percent identical, but slight differences can give scientists insight into traits that can affect an individual’s health. 1 percent may be “larger” than the rest in some cases.

“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.