Scientists at the University of California, Santa Cruz, together with a consortium of researchers, have released a draft of the first human pangenome, which combines the genetic material of 47 individuals from diverse ancestral backgrounds to offer a more accurate representation of global genomic di
The pangenome was produced by the Human Pangenome Reference Consortium , 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. 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.
“One genome can’t possibly represent all of the rich variation we know can be observed and studied around the world,” said Miga, Director of the HPRC Production Center at UCSC. “The No.
Each human carries a paired set of chromosomes—one set inherited from the mother and one from the father. The individual genomes present in the pangenome reference contains haplotype-resolved information, meaning it can confidently distinguish the two parental sets of chromosomes—a major scientific feat. Having this information will help scientists better understand how various genes and diseases are inherited.
The HPRC project relies heavily on long- and ultra long-read sequencing technology to read DNA from biological samples. With recent advances, these techniques can now decode thousands to millions of base pairs of the genome at once. The long stretches of DNA reads are then assembled via specialized algorithms into more complete genomic sequences. Ideally each assembled sequence should represent the sequence of one chromosome.
“The draft pangenome is an important proof of principle that we hope is going to influence a lot of people and get them thinking about the pangenome and how it might affect their work,” Paten said. “Looking ahead, we see a lot of engagement with other groups—it takes a lot of different people to build something that is going to become a big community resource.”
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