For the first time, researchers have made available a fresh set of reference human genome sequences drawn from a broader human population that more fully reflects the diversity. The pangenome reference currently has the genome sequences of 47 individuals, with the researchers aiming to reach 350 individuals by the middle of 2024.A pangenome is a collection of whole genome sequences from numerous people that is intended to depict the genetic variety of the human species. A human genome is the set of instructions needed to create and maintain an individual human.
According to researchers from the Human Pangenome Reference Consortium, the study is already revealing new information about health and disease and will eventually benefit patients. It effectively represents a restart of the previous attempt and addresses a critical flaw, which was the failure to account for the genetic variances among the world's 8 billion inhabitants.
"We need to have a thorough grasp of the variations and differences among people. We're losing out, according to genetics researcher Benedict Paten of the University of California.
The information was made public in a quartet of studies that appeared in the journals Nature and Nature Biotechnology. The new reference should aid researchers in their understanding of what constitutes normal behaviour.
The updated genome breakdown could enhance genetic testing, shed light on how genetic variation affects health and disease, and help with medication discovery. It might be especially useful for comprehending drug metabolism and neurodevelopmental problems such schizophrenia, autism, macrocephaly, and microcephaly.
The pangenome is a collection of genomes rather than a composite; scientists describe it as a rainbow of stacked genomes as opposed to the older, single reference genome, which is represented by a single line. The first comprehensive sequencing of the human genome, which began more than 20 years ago and was completed only last year, serves as the foundation for the Human Pangenome Project.
The earlier research was heavily reliant on a single person's DNA and had big gaps. The new effort consists of an alignment of each individual genome to indicate which regions are similar and which are different, as well as a collection of almost flawless genome assemblies for 47 individuals with various ancestries.
"A pangenome is a collection of various genomes, not just one reference genome. Benedict Paten, co-leader of the group, said in a statement that by comparing those genomes, "we can then build a map of not just one individual, but a whole population of variation."
About 300,000 years ago, our species, Homo sapiens, emerged in Africa and then spread to other parts of the world. We are all linked to one another through our shared past, and because our ancestry is so complex, the new initiative may help us better comprehend how people around the world are distributed.
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