The international Human Pangenome Reference Consortium recently released a new rough draft of human pangenome.
The new rough draft includes DNA from genetic information provided by 47 individuals, according to a May 10 NIH news release. The draft replaces the original reference human genome sequence that was almost 20 years old.
"Everyone has a unique genome, so using a single reference genome sequence for every person can lead to inequities in genomic analyses," Adam Phillippy, senior investigator in the Computational and Statistical Genomics Branch within NHGRI's Intramural Research Program, said in the news release. "For example, predicting a genetic disease might not work as well for someone whose genome is more different from the reference genome."
Despite being regularly updated, the original sequence was fundamentally limited because it contained genomes from only about 20 people, and most of it from one person, the release reported.
The National Human Genome Research Institute, a division of the National Institutes of Health, provided funding for the international Human Pangenome Reference Consortium, which oversaw the project, according to the release.
The new pangenome reference's of 47 peoples' sequences is only the beginning as researchers hope to increase that number to 350 by the summer of next year, the release said. Every human being carries a paired set of chromosomes, which means the current reference includes 94 distinct genome sequences. Researchers have set a goal of reaching 700 distinct genome sequences by the time the project is completed.
The work, published in the journal "Nature," was one of several papers published the same day by consortium members, according to the release.
Every living thing has a genome, which is a collection of DNA instructions that guide growth and operation, the release said. Individual genome sequences vary slightly from being to being, and human genomes are often more than 99% similar between any two individuals.
Small variations add to each person's individuality and can provide information about their health, aiding in the diagnosis of disease, predicting outcomes and directing medical therapies, the release reported.
"By using the pangenome reference, we can more accurately identify larger genomic variants called structural variants," Mobin Asri, a Ph.D. student at the University of California Santa Cruz and co-first author of the paper, said in the news release. "We are able to find variants that were not identified using previous methods that depend on linear reference sequences."
