The Human Pangenome Project: a global resource to map genomic diversity

Ting Wang (), Lucinda Antonacci-Fulton, Kerstin Howe, Heather A. Lawson, Julian K. Lucas, Adam M. Phillippy, Alice B. Popejoy, Mobin Asri, Caryn Carson, Mark J. P. Chaisson, Xian Chang, Robert Cook-Deegan, Adam L. Felsenfeld, Robert S. Fulton, Erik P. Garrison, Nanibaa’ A. Garrison, Tina A. Graves-Lindsay, Hanlee Ji, Eimear E. Kenny, Barbara A. Koenig, Daofeng Li, Tobias Marschall, Joshua F. McMichael, Adam M. Novak, Deepak Purushotham, Valerie A. Schneider, Baergen I. Schultz, Michael W. Smith, Heidi J. Sofia, Tsachy Weissman, Paul Flicek (), Heng Li (), Karen H. Miga (), Benedict Paten (), Erich D. Jarvis (), Ira M. Hall (), Evan E. Eichler () and David Haussler ()
Additional contact information
Ting Wang: Washington University School of Medicine
Lucinda Antonacci-Fulton: Washington University School of Medicine
Kerstin Howe: Wellcome Sanger Institute
Heather A. Lawson: Washington University School of Medicine
Julian K. Lucas: University of California
Adam M. Phillippy: National Human Genome Research Institute
Alice B. Popejoy: University of California
Mobin Asri: University of California
Caryn Carson: Washington University School of Medicine
Mark J. P. Chaisson: University of Southern California
Xian Chang: University of California
Robert Cook-Deegan: Arizona State University, Barrett & O’Connor Washington Center
Adam L. Felsenfeld: National Institutes of Health (NIH)–National Human Genome Research Institute
Robert S. Fulton: Washington University School of Medicine
Erik P. Garrison: University of Tennessee Health Science Center
Nanibaa’ A. Garrison: University of California, Los Angeles
Tina A. Graves-Lindsay: Washington University School of Medicine
Hanlee Ji: School of Medicine
Eimear E. Kenny: Icahn School of Medicine at Mount Sinai
Barbara A. Koenig: University of California, San Francisco
Daofeng Li: Washington University School of Medicine
Tobias Marschall: Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics
Joshua F. McMichael: Washington University School of Medicine
Adam M. Novak: University of California
Deepak Purushotham: Washington University School of Medicine
Valerie A. Schneider: National Center for Biotechnology Information (NCBI), National Library of Medicine
Baergen I. Schultz: National Institutes of Health (NIH)–National Human Genome Research Institute
Michael W. Smith: National Institutes of Health (NIH)–National Human Genome Research Institute
Heidi J. Sofia: National Institutes of Health (NIH)–National Human Genome Research Institute
Tsachy Weissman: Stanford University
Paul Flicek: European Bioinformatics Institute
Heng Li: Harvard Medical School
Karen H. Miga: University of California
Benedict Paten: University of California
Erich D. Jarvis: The Rockefeller University
Ira M. Hall: Yale School of Medicine
Evan E. Eichler: University of Washington School of Medicine
David Haussler: University of California

Nature, 2022, vol. 604, issue 7906, 437-446

Abstract: Abstract The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnerships with the goal of constructing the highest-possible quality human pangenome reference. Our goal is to improve data representation and streamline analyses to enable routine assembly of complete diploid genomes. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve gene–disease association studies across populations, expand the scope of genomics research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.

Date: 2022
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DOI: 10.1038/s41586-022-04601-8

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