New Delhi: Researchers have published the first draft of the human pangenome — a new, usable reference for genomics that combines the genetic material of 47 individuals from diverse ancestral backgrounds, allowing for a deeper, more precise understanding of global genetic diversity.
The pangenome was created by the government-funded Human Pangenome Reference Consortium (HPRC), launched in 2019, among a dozen research institutions in the United States and Europe.
By adding 119 million bases — „letters” in DNA sequences — to the existing genetic reference, Pangenome captures human genetic diversity impossible with a single reference genome.
Rockefeller University researchers in the US involved in the project called the single reference gene a „flawed tool”.
One of its biggest problems is that about 70 percent of its data came from a man of mostly African-European background whose DNA was sequenced during the Human Genome Project, the first attempt to capture all of a person’s DNA.
As a result, it can tell us little about the 0.2 to one percent of genetic sequence that differentiates each of the planet’s seven billion people from one another, creating an inherent bias in biomedical data that is believed to be due. Some of the health disparities affecting patients today.
Researchers from University of California Santa Cruz (UCSC), US, as part of the collaboration, said the reference is nearly 20 years old and fundamentally limited because it cannot represent the wealth of genetic variation that exists in human populations.
They claimed that the human pangenome was more accurate, more complete, and dramatically increased the detection of variations in the human genome.
A collection of research papers on the human genome has been published in the journals Nature and Nature Biotechnology.
„By modeling different people and including them in this framework that everyone can use, we’re introducing more diversity and equity into the reference,” said Benedict Batten, associate professor of biomolecular engineering at UCSC.
„One gene is not enough to represent everyone—the genome will ultimately be inclusive and representative,” Baden said.
Pangenome is a reference that combines the genomes of 47 individuals from different ancestral backgrounds. It looks like a linear reference in areas where rows have the same bases, and expands to show areas where there are differences. This represents different versions of the human genome sequence simultaneously, and gives scientists a precise point of comparison for variation that exists in some populations but not others, the UCSC researchers said.
They said the pangenome was made possible by developing advanced computational techniques to align multiple genome sequences together, a reference that can be used in a structure called a pangenome graph.
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Batten and researchers in the UCSC Computational Genomics Laboratory helped develop the algorithms needed to create this pangenome map structure.
Because of the methods used in this project, all genes in the pangenome annotation are of extremely high quality and accuracy, covering every human genome with greater than 99 percent accuracy, they said.
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