A draft human pangenome reference.

Humans Diploidy Genome, Human / genetics Haplotypes / genetics Sequence Analysis, DNA Genomics / standards Reference Standards Cohort Studies Alleles Genetic Variation

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
May 2023
Historique:
received: 09 07 2022
accepted: 28 02 2023
medline: 12 5 2023
pubmed: 11 5 2023
entrez: 10 5 2023
Statut: ppublish

Résumé

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals

Identifiants

DOI: 10.1038/s41586-023-05896-x PMID: 37165242 PMC: PMC10172123
pubmed: 37165242
doi: 10.1038/s41586-023-05896-x
pii: 10.1038/s41586-023-05896-x
pmc: PMC10172123
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

312-324

Subventions

Organisme : NHGRI NIH HHS
ID : R01 HG006677
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010961
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM130151
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG010972
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010973
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011649
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010963
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009081
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG010262
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG011853
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010485
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007497
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200398
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : NIH HHS
ID : OT2 OD033761
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM123489
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2023. The Author(s).

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Auteurs

Wen-Wei Liao (WW)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.
Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA.
ORCID: 0000-0001-8183-213X

Mobin Asri (M)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Jana Ebler (J)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.

Daniel Doerr (D)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
ORCID: 0000-0002-3720-6227

Marina Haukness (M)

Genomics Institute, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0001-9991-8089

Glenn Hickey (G)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Shuangjia Lu (S)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.
ORCID: 0000-0001-8571-6902

Julian K Lucas (JK)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Jean Monlong (J)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Haley J Abel (HJ)

Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.

Silvia Buonaiuto (S)

Institute of Genetics and Biophysics, National Research Council, Naples, Italy.

Xian H Chang (XH)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Haoyu Cheng (H)

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

Justin Chu (J)

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.

Vincenza Colonna (V)

Institute of Genetics and Biophysics, National Research Council, Naples, Italy.
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
ORCID: 0000-0002-3966-0474

Jordan M Eizenga (JM)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Xiaowen Feng (X)

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

Christian Fischer (C)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.

Robert S Fulton (RS)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.

Shilpa Garg (S)

Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark.

Cristian Groza (C)

Quantitative Life Sciences, McGill University, Montréal, Québec, Canada.

Andrea Guarracino (A)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Genomics Research Centre, Human Technopole, Milan, Italy.
ORCID: 0000-0001-9744-131X

William T Harvey (WT)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Simon Heumos (S)

Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.
Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany.

Kerstin Howe (K)

Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.
ORCID: 0000-0003-2237-513X

Miten Jain (M)

Northeastern University, Boston, MA, USA.
ORCID: 0000-0002-4571-3982

Tsung-Yu Lu (TY)

Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
ORCID: 0000-0001-7110-3937

Charles Markello (C)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Fergal J Martin (FJ)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-1672-050X

Matthew W Mitchell (MW)

Coriell Institute for Medical Research, Camden, NJ, USA.
ORCID: 0000-0002-6947-0495

Katherine M Munson (KM)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0001-8413-6498

Moses Njagi Mwaniki (MN)

Department of Computer Science, University of Pisa, Pisa, Italy.

Adam M Novak (AM)

Genomics Institute, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0001-5828-047X

Hugh E Olsen (HE)

Genomics Institute, University of California, Santa Cruz, CA, USA.

Trevor Pesout (T)

Genomics Institute, University of California, Santa Cruz, CA, USA.

David Porubsky (D)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0001-8414-8966

Pjotr Prins (P)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
ORCID: 0000-0002-8021-9162

Jonas A Sibbesen (JA)

Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark.

Jouni Sirén (J)

Genomics Institute, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0001-5828-4139

Chad Tomlinson (C)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
ORCID: 0000-0001-9905-6159

Flavia Villani (F)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
ORCID: 0000-0003-3633-0610

Mitchell R Vollger (MR)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0002-8651-1615

Lucinda L Antonacci-Fulton (LL)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.

Gunjan Baid (G)

Google, Mountain View, CA, USA.

Carl A Baker (CA)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Anastasiya Belyaeva (A)

Google, Mountain View, CA, USA.

Konstantinos Billis (K)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0001-8568-4306

Andrew Carroll (A)

Google, Mountain View, CA, USA.

Pi-Chuan Chang (PC)

Google, Mountain View, CA, USA.

Sarah Cody (S)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.

Daniel E Cook (DE)

Google, Mountain View, CA, USA.

Robert M Cook-Deegan (RM)

Barrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA.

Omar E Cornejo (OE)

Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0003-4076-4227

Mark Diekhans (M)

Genomics Institute, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0002-0430-0989

Peter Ebert (P)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
Core Unit Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
ORCID: 0000-0001-7441-532X

Susan Fairley (S)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Olivier Fedrigo (O)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-6450-7551

Adam L Felsenfeld (AL)

National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.

Giulio Formenti (G)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-7554-5991

Adam Frankish (A)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Yan Gao (Y)

Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Nanibaa' A Garrison (NA)

Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.
Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
ORCID: 0000-0002-6228-3216

Carlos Garcia Giron (CG)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Richard E Green (RE)

Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.
Dovetail Genomics, Scotts Valley, CA, USA.
ORCID: 0000-0003-0516-5827

Leanne Haggerty (L)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Kendra Hoekzema (K)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Thibaut Hourlier (T)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0003-4894-7773

Hanlee P Ji (HP)

Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0003-3772-3424

Eimear E Kenny (EE)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Barbara A Koenig (BA)

Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA.

Alexey Kolesnikov (A)

Google, Mountain View, CA, USA.

Jan O Korbel (JO)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.
ORCID: 0000-0002-2798-3794

Jennifer Kordosky (J)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Sergey Koren (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-1472-8962

HoJoon Lee (H)

Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
ORCID: 0000-0002-0973-9544

Alexandra P Lewis (AP)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Hugo Magalhães (H)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
ORCID: 0000-0002-6807-1548

Santiago Marco-Sola (S)

Computer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.
Departament d'Arquitectura de Computadors i Sistemes Operatius, Universitat Autònoma de Barcelona, Barcelona, Spain.
ORCID: 0000-0001-7951-3914

Pierre Marijon (P)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.

Ann McCartney (A)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Jennifer McDaniel (J)

Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
ORCID: 0000-0003-1987-0914

Jacquelyn Mountcastle (J)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0003-1078-4905

Maria Nattestad (M)

Google, Mountain View, CA, USA.

Sergey Nurk (S)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Nathan D Olson (ND)

Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
ORCID: 0000-0003-2585-3037

Alice B Popejoy (AB)

Department of Public Health Sciences, University of California, Davis, CA, USA.

Daniela Puiu (D)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.

Mikko Rautiainen (M)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Allison A Regier (AA)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.

Arang Rhie (A)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-9809-8127

Samuel Sacco (S)

Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.

Ashley D Sanders (AD)

Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.

Valerie A Schneider (VA)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.

Baergen I Schultz (BI)

National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.

Kishwar Shafin (K)

Google, Mountain View, CA, USA.
ORCID: 0000-0001-5252-3434

Michael W Smith (MW)

National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.

Heidi J Sofia (HJ)

National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.

Ahmad N Abou Tayoun (AN)

Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.
Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.

Françoise Thibaud-Nissen (F)

National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-4957-7807

Francesca Floriana Tricomi (FF)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-6170-5499

Justin Wagner (J)

Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.

Brian Walenz (B)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0001-8431-1428

Jonathan M D Wood (JMD)

Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.
ORCID: 0000-0002-7545-2162

Aleksey V Zimin (AV)

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.

Guillaume Bourque (G)

Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Canadian Center for Computational Genomics, McGill University, Montréal, Québec, Canada.
Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan.
ORCID: 0000-0002-3933-9656

Mark J P Chaisson (MJP)

Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
ORCID: 0000-0001-5395-1457

Paul Flicek (P)

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
ORCID: 0000-0002-3897-7955

Adam M Phillippy (AM)

Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-2983-8934

Justin M Zook (JM)

Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
ORCID: 0000-0003-2309-8402

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
ORCID: 0000-0002-8246-4014

David Haussler (D)

Genomics Institute, University of California, Santa Cruz, CA, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
ORCID: 0000-0003-1533-4575

Ting Wang (T)

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
ORCID: 0000-0002-6800-242X

Erich D Jarvis (ED)

Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.
Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-8931-5049

Karen H Miga (KH)

Genomics Institute, University of California, Santa Cruz, CA, USA.
ORCID: 0000-0002-3670-4507

Erik Garrison (E)

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu.
ORCID: 0000-0003-3821-631X

Tobias Marschall (T)

Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.
Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.
ORCID: 0000-0002-9376-1030

Ira M Hall (IM)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.
Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.
ORCID: 0000-0003-4442-6655

Heng Li (H)

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu.
ORCID: 0000-0003-4874-2874

Benedict Paten (B)

Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.
ORCID: 0000-0001-8863-3539

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A draft human pangenome reference.
questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Diploïdie › A draft human pangenome reference.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › A draft human pangenome reference.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Haplotypes › A draft human pangenome reference.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › A draft human pangenome reference.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › A draft human pangenome reference.
questionsmedicales.fr › Techniques d'investigation › Poids et mesures › Normes de référence › A draft human pangenome reference.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › A draft human pangenome reference.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › A draft human pangenome reference.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › A draft human pangenome reference.