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

Autor: Wang T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu., Antonacci-Fulton L; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Howe K; Wellcome Sanger Institute, Cambridge, UK., Lawson HA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Lucas JK; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Phillippy AM; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Popejoy AB; Epidemiology Division, Department of Public Health Sciences, University of California, Davis, CA, USA., Asri M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Carson C; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Chang X; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Cook-Deegan R; Arizona State University, Barrett & O'Connor Washington Center, Washington DC, USA., Felsenfeld AL; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Garrison EP; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Garrison NA; Institute for Society & Genetics, College of Letters and Science, University of California, Los Angeles, Los Angeles, CA, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Division of General Internal Medicine & Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Graves-Lindsay TA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Ji H; Department of Medicine, Stanford University, School of Medicine, Stanford, CA, USA., Kenny EE; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Koenig BA; Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Li D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Marschall T; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany., McMichael JF; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Novak AM; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Purushotham D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Schneider VA; National Center for Biotechnology Information (NCBI), National Library of Medicine, Bethesda, MD, USA., Schultz BI; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Smith MW; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Sofia HJ; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Weissman T; Department of Electrical Engineering, Stanford University, Stanford, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK. flicek@ebi.ac.uk., Li H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu.; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. khmiga@ucsc.edu., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu., Jarvis ED; Vertebrate Genome Lab and and Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA. ejarvis@rockefeller.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. ejarvis@rockefeller.edu., Hall IM; Yale School of Medicine, New Haven, CT, USA. ira.hall@yale.edu., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu., Haussler D; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. haussler@ucsc.edu.; Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA. haussler@ucsc.edu.
Jazyk: angličtina
Zdroj: Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 437-446. Date of Electronic Publication: 2022 Apr 20.
DOI: 10.1038/s41586-022-04601-8
Abstrakt: 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.
(© 2022. Springer Nature Limited.)
Databáze: MEDLINE
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