NIH-funded Scientists to Discuss New Human “Pangenome” Reference

The new human pangenome reference, a high-quality collection of reference human genome sequences, captures significantly more human diversity than previous references. The human pangenome reference will allow researchers and clinicians to find new genomic variants, accelerate clinical research and deepen our understanding of the human genome.

The Human Pangenome Reference Consortium is funded by the National Human Genome Research Institute (NHGRI), part of the NIH, to sequence and assemble human genomes from diverse populations to better represent genomic landscape of diverse human populations. The consortium is part of the Human Genome Reference Program, which is funded for five years for a total of $35 million.

This embargoed event is for registered press only.

Opening remarks by Eric Green, M.D., Ph.D., NHGRI director 

Human Pangenome Reference Consortium researchers and paper authors who will be available for questions are:

• Evan Eichler, Ph.D., professor of genome sciences at the University of Washington School of Medicine in Seattle
   
• Erik Garrison, Ph.D., assistant professor in the Department of Genetics, Genomics and Informatics at the University of Tennessee Health Science Center
   
• Ira Hall, Ph.D., professor of genetics and director of the Yale Center for Genomic Health at Yale University
   
• Erich Jarvis, Ph.D., professor and head of the Laboratory of Neurogenetics of Language at Rockefeller University and investigator at Howard Hughes Medical Institute
   
• Eimear Kenny, Ph.D., professor of medicine and genetics, and the founding director of the Institute for Genomic Health at Icahn School of Medicine at Mount Sinai
   
• Barbara Koenig, Ph.D., R.N., professor emeritus of medical anthropology and bioethics, University of California, San Francisco
   
• Heng Li, Ph.D., associate professor of biomedical informatics at Harvard University
   
• Tobias Marschall, Ph.D., professor at Heinrich Heine University and director of the Institute for Medical Biometry and Bioinformatics at the Medical Faculty, Germany
   
• Karen Miga, Ph.D., assistant professor in the biomolecular engineering department at the University of California, Santa Cruz and associate director of the UC Santa Cruz Genomics Institute
   
• Benedict Paten, Ph.D., associate professor of biomolecular engineering at the University of California, Santa Cruz, and associate director of the UC Santa Cruz Genomics Institute
   
• Ting Wang, Ph.D. Inaugural Sanford C. and Karen P. Loewentheil Distinguished Professor of Medicine at Washington University School of Medicine in St. Louis

Tuesday, May 9, 2023, 11 a.m. E.T./4 p.m. UK time.

Please note that both the briefing and the papers remain under embargo until 11 a.m. E.T./4 p.m. UK time on Wednesday, May 10, 2023.

Visit https://register.gotowebinar.com/register/5888525113359722069 to pre-register for the call.

On average, any two peoples’ genomes are more than 99% identical, but the small differences can provide insight about health, help diagnose diseases and guide medical treatment. Scientists create and use a human genome reference as a tool for detecting genomic differences amongst the human population.

The original human genome reference is nearly 20 years old. Over the years, researchers have filled in missing gaps and fixed errors in the human genome sequence, but the current genome reference only reflects genomic sequence data from around 20 people and is limited in its representation of human diversity.

To create a high-quality collection of reference genomes, known as a pangenome reference, researchers from the NIH-funded Human Pangenome Reference Consortium generated and compiled genome sequences from 47 people, with the goal of increasing that number to 350 by mid-2024. Since each person contributes the sequences from pairs of each chromosome, the pangenome reference currently includes 94 distinct genome sequences and aims to reach 700 distinct genome sequences by the end of the project.

The new human pangenome reference consists of a collection of many different genome sequences. Each assembled human genome sequence in the pangenome reference covers more than 99% of the expected sequence with more than 99% accuracy. With a pangenome reference that is increasingly reflecting the diversity of the human population, scientists will be better positioned to conduct genomics research in a more inclusive fashion.