UCSC helps produce first truly complete sequence of a human genome

To: UCSC Community

From: Cynthia Larive Chancellor and Lori Kletzer Campus Provost and Executive Vice Chancellor

UC Santa Cruz has a long history of pioneering advances in genomics research. The first working draft of a human genome sequence was assembled on our campus in 2000, which has led to enormous leaps in our collective understanding of human biology and disease.

Crucial regions of the human genome have remained hidden from scientists even after our campus’s mapping breakthrough two decades ago because of the limitations of DNA-sequencing technologies.

That has now changed. The first truly complete sequence of a human genome — covering each chromosome from end to end with no gaps and unprecedented accuracy — is now available for the whole world to access.

Karen Miga, assistant professor of biomolecular engineering at UC Santa Cruz, and Adam Phillippy of the National Human Genome Research Institute in 2019 organized an international team of scientists — the Telomere-to-Telomere (T2T) Consortium — to fill in the missing pieces. Their efforts have paid off.

These newly sequenced parts of the human genome are important to our understanding of how the genome works, genetic diseases, and human diversity and evolution. The new T2T reference genome will complement the standard human reference genome, which had its origins in the publicly funded Human Genome Project and has been continually updated since that first draft in 2000.

The T2T Consortium has now joined with the Human Pangenome Reference Consortium, which aims to create a new “human pangenome reference” based on the complete genome sequences of 350 individuals. Our Genomics Institute is playing a leading role in this ambitious effort, which will generate and maintain a completely new and comprehensive reference sequence of the human genome that represents human genetic diversity.

Please join us in recognizing this remarkable achievement for UC Santa Cruz — and for humanity.