Genomics Mixer: Fighting Cancer with AI
UC Santa Cruz scientists Benedict Paten and Karen Miga are at the forefront of computational genomics, harnessing data, algorithms, and artificial intelligence to decode the human genome. Their work spans broad challenges, but they are especially focused on developing tools to understand better cancer, rare diseases, and dementias—areas where genomics promises transformative breakthroughs.
Karen Miga, Benedict Paten
In January 2025, their research team published a landmark study in The American Journal of Human Genetics, demonstrating how long-read genome sequencing, including nanopore technology, can dramatically improve the diagnosis of rare diseases. The study of 42 patients showed that long-read sequencing not only increased diagnostic yield but also reduced time and cost.
“Telomere-to-telomere references— will extract even more benefit from new long-read sequencing technologies,” said Miga in the UCSC release, underscoring the value of moving beyond incomplete reference genomes. Independent trade-press coverage emphasized the clinical significance: more comprehensive genetic information leads to faster, more accurate diagnoses for families seeking answers.
Beyond rare disease diagnostics, Paten and Miga are leaders in the Human Pangenome Reference Consortium (HPRC), an ambitious international collaboration to replace the current human reference genome with a far more inclusive resource. In May 2023, the consortium published its first results in Nature, unveiling 47 phased, diploid assemblies that capture unprecedented genomic diversity. Miga co-leads several HPRC working groups, including efforts on population sampling, technology, and telomere-to-telomere assembly, while Paten spearheads the computational frameworks and tools needed to build and apply pangenomes.
Together, their efforts position UC Santa Cruz as a global leader in the next generation of genomic science. By developing technologies that make genomes more complete, diverse, and clinically useful, Paten and Miga are ensuring that genomic medicine advances equitably and effectively for all.
