The Human Pangenome Reference Sequencing Project has received two grants of renewed funding for US$14m.
The programme, which began in 2019, aims to increase the diversity of human genome sequences that are pooled into the widely used reference genome.
Funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), the project aims to accurately reflect the full range of human diversity worldwide, make the reference genome more useful to researchers and ensure that all people — regardless of their genetic ancestry — can benefit from the promise of precision medicine.
The project is carried out at the Washington University School of Medicine in St. Louis, housing one of the data production centres performing genomic sequencing. Nationally, the two grants total US$29m, of which WashU Medicine will receive about $$14m to fund its coordinating and sequencing centers.
“We are excited to continue this work expanding and diversifying the pangenome reference sequence, as well as building and disseminating the new tools and resources,” said principal investigator Ting Wang, professor of Medicine at WashU Medicine.
“Human genomics is a cornerstone of personalised medicine. This project will help ensure that the human genomes we study accurately reflect human diversity so that newly developed precision treatments have the potential to benefit everyone.”
The original human genome reference sequence, completed in 2002, was based on the genomes of a small number of volunteers. And in most portions of that first reference genome, the sequence was from a single person.
WashU Medicine’s McDonnell Genome Institute played a major role in the original Human Genome Project that produced the first reference sequence.
The institute contributed 25 per cent of the genetic data to identify all 3.1 billion base pairs of DNA that make up the human genome. While a massive milestone in the history of human genome research, the original reference genome reflected a tiny fraction of the scope of human diversity.
To widen this view, the first phase of the pangenome reference project added genomes from 350 people of different racial and ethnic backgrounds to the reference data.
Now, the second phase will add genomes from an additional 200 individuals, increasing the total number to 550 individuals of diverse backgrounds. All the data and tools developed by the researchers are made available as resources to the broader scientific community.
The investigators emphasise the importance of considering the ethical, legal and social implications of genomic research. The project includes a team of researchers dedicated to addressing these issues, including attention to informed consent for participating in research, understanding how the data are used and protected and ensuring that these resources are equitably accessible.
For the national coordinating centre, WashU Medicine leads a collaboration with UC Santa Cruz and the European Molecular Biology Laboratory’s European Bioinformatics Institute to form the Human Pangenome Reference Consortium Coordination Center.
The second centre, focused on sequencing — the Center for Human Genome Reference Diversity— is led by UC Santa Cruz and comprises the McDonnell Genome Institute at WashU and the University of Washington.
