Campus researchers make history with release of first human pangenome

To: UCSC Community

From:  Cynthia Larive, UC Santa Cruz Chancellor and Lori Kletzer Campus Provost and Executive Vice Chancellor

We are extremely proud to share the news that UC Santa Cruz scientists played a critical role in an enormous scientific achievement that boosts our understanding of human biology and genomic diversity, and will ultimately help diagnose disease and guide treatments for people worldwide.  

The Human Pangenome Reference Consortium (HPRC)—co-led by UCSC’s Associate Professor of Biomolecular Engineering Benedict Paten and Assistant Professor of Biomolecular Engineering Karen Miga—today released a draft of the first human pangenome, which combines the genetic material of 47 individuals from different ancestral backgrounds. More than a dozen researchers from our Genomics Institute including several student researchers have been involved with this project, which will continue into 2024, when researchers expect to release a final version of the pangenome with genomic information from 350 individuals.

The pangenome is significant in that it gives scientists a deeper, more accurate, and more inclusive understanding of worldwide genomic diversity, allowing for more detailed genomic analyses. Even in its draft form of 47 sequences, the pangenome has already proven to be more effective at detecting variants. Having this information helps scientists better understand how various genes and diseases are inherited, for example, and provides valuable insights into human health.

The pangenome is the latest achievement in a sustained effort by UC Santa Cruz researchers to decipher the chemical makeup of the human genetic code.

UC Santa Cruz made history in 2000, when then-graduate student Jim Kent, now a research scientist at the Genomics Institute, wrote the code that allowed the publicly funded Human Genome Project to assemble and publish the first human genome sequence. The mapping is considered one of the greatest scientific feats in history. Last spring, the Telomere-to-Telomere Consortium, co-led by Prof. Miga, announced it had assembled the first complete sequencing of a human genome, filling in missing, complex regions that had long eluded scientists because of the limitations of DNA-sequencing technologies.

The pangenome is another huge scientific step forward. Please join us in recognizing this remarkable achievement. Congratulations to all in our campus community who played a role.