PacBio is contributing long-read transcriptomic data to the 1000 Genomes Long Read Sequencing Project, using its Kinnex RNA kits and Revio platform to sequence approximately 1,000 globally diverse human samples.

The project aims to expand understanding of transcript-level gene expression, alternative splicing, and regulatory mechanisms by adding isoform sequencing to one of the world’s most referenced human genomics datasets. The work is being carried out in collaboration with researchers at the University of Washington and Johns Hopkins University, including Dr Danny Miller, Dr Evan Eichler, and Dr Rajiv McCoy.

The effort is expected to yield around 10 million full-length transcript reads per sample using PacBio’s HiFi sequencing technology. Data generation is underway at the Eichler Lab and Seattle Children’s Research Institute, with analysis support provided by the McCoy Lab.

“Adding full-length isoform sequencing to the 1000 Genomes Project represents a unique opportunity to enrich this foundational resource,” said Dr Miller, assistant professor at the University of Washington and lead investigator. “This effort will deliver a dataset and analysis framework that supports diverse applications, from basic biology to rare disease diagnostics. By integrating isoform-level information, we’ll be better positioned to understand gene regulation, alternative splicing, and the transcriptomic complexity that underlies human health and disease.”

The inclusion of Iso-Seq data is expected to provide a new functional layer to the cohort, supporting both scientific discovery and the development of benchmarking tools for the broader genetics and bioinformatics communities.

According to the company, isoform sequencing is one of the most impactful applications of its HiFi technology, and the collaboration will help build scalable bioinformatics pipelines to support growth in long-read transcriptomics.

All sequencing data and analysis pipelines from the project will be made openly available. Early results are expected to be shared at the upcoming American Society of Human Genetics (ASHG) conference.

The 1000 Genomes Long Read Sequencing Project aims to create open, globally representative genomic datasets to support equity and access in human genetics research.