Using the pangenome reference will improve scientists' ability to detect and understand variation in future studies. "One genome isn't enough to represent everybody-the pangenome will ultimately be something that is inclusive and representative."Įach person's genome varies slightly-by about 0.4% compared to the next person, on average-and understanding these differences can provide insight into their health, help to diagnose disease, predict medical outcomes, and guide treatments. "We are introducing more diversity and equity into the reference by sampling diverse human beings and including them in this structure that everyone can use," said Paten, who is the senior author on the main marker paper. More than a dozen UCSC researchers and students are contributors to this project, which will continue into 2024 when the researchers plan to release a final pangenome with genomic information from 350 individuals. The pangenome was produced by the Human Pangenome Reference Consortium (HPRC), which is co-led by UCSC's Associate Professor of Biomolecular Engineering Benedict Paten and Assistant Professor of Biomolecular Engineering Karen Miga and is now available for use in an assembly hub on the UCSC Genome Browser. It is highly accurate, more complete and dramatically increases the detection of variants in the human genome, as shown in a collection of groundbreaking papers published today in the journals Nature, Genome Research, Nature Biotechnology, and Nature Methods. By adding 119 million bases-the "letters" in DNA sequences-to the existing genomics reference, the pangenome provides a representation of human genetic diversity that was not possible with a single reference genome.
0 Comments
Leave a Reply. |