- Researchers have published a new, more inclusive collection of reference human genome sequences in a landmark development.
- The new pangenome reference includes the genome sequences of 47 people from around the world. The original reference human genome sequence was primarily derived from a single human.
- The pangenome better reflects the global gene pool, so scientists can use it to more accurately identify genetic variations associated with disease.
Andrew Brookes | Image Source | Getty Images
Scientists have been using the same human genome sequence to study genomics for more than 20 years, but on Wednesday it got a big change.
Researchers have published a new, more inclusive reference collection human genome sequences in a landmark development that greatly expands on the original reference sequence.
The new pangenome reference includes the genome sequences of 47 people from around the world, according to a series of peer-reviewed papers published in the journal Nature on Wednesday. The original reference human genome sequence came primarily from one person, although it included parts from a total of about 20 people.
The pangenome better reflects the global gene pool, so scientists can use it to more accurately identify genetic variations associated with disease. The more diverse reference map will also eventually be used to help develop more personalized care tailored to an individual’s DNA, according to the researchers.
The genome is the complete set of DNA instructions needed for an organism to grow and function. Scientists rely on a reference human genome to establish a “standard” they can use to study the variations that make people unique. On average, human genomes are about 99% identical, but small differences can give scientists insights into traits that may affect an individual’s health.
“With a pangenome reference, we can accelerate clinical research by improving our understanding of the link between genes and disease characteristics,” Wen-Wei Liao, co-first author of the paper, said in a release.
pangenome uses advanced computational techniques to align all genome sequences. These techniques helped fill in the gaps left by the original reference by adding more than 100 million new DNA letters, the release said.
“The human pangenome reference will allow us to represent thousands of novel genomic variants in previously inaccessible regions of the genome,” said Liao.
Scientists at the Human Pangenome Reference Consortium, funded in part by the National Institutes of Health, conducted the research.
