A new human "pangenome" reference

The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.

News

News Release: Scientists release a new human “pangenome” reference
May 10, 2023

From NHGRI Director: Remarks from the Human Pangenome Media Briefing
May 10, 2023

Media Advisory: NIH-funded Scientists to Discuss New Human “Pangenome” Reference
May 4, 2023

Human pangenome

Nature
Volume 617 Issue 7960, 11 May 2023

The cover shows the pangenome wrapping a globe and uses a sequence tube map rendering of a pangenome graph relating ten haplotypes within the highly variable HLA-A locus on chromosome 6 created by Adam Novak at the University of California, Santa Cruz.

Cover image: Darryl Leja/NHGRI

Papers

Liao et al. A draft human pangenome reference. Nature. Doi: 10.1038/s41586-023-05896-x (2023).

Vollger et al. Increased mutation rate and gene conversion within human segmental duplications. Nature. Doi: 10.1038/s41586-023-05895-y (2023).

Guarracino et al. Recombination between heterologous human acrocentric chromosomes. Nature. Doi: 10.1038/s41586-023-05976-y (2023).

Hickey et al. Pangenome graph construction from genome alignment with minigraph-cactus. Nature Biotechnology. Doi: 10.1038/s41587-023-01793-w (2023).

News Coverage

New York Times: Scientists Unveil a More Diverse Human Genome

Washington Post: A new, more diverse human genome offers hope for rare genetic diseases

CNN: Scientists have updated the human genome to make it more equitable and inclusive

NBC News: Scientists announce rough draft of human pangenome

BBC: Updated DNA map better reflects human diversity

Yahoo!: Scientists announce rough draft of human pangenome

The AP: DNA project gives scientists diverse genome for comparison

STAT News: Human ‘pangenome’ published, with goal of making genomics more useful for diverse populations

NewScientist: What is the human pangenome and why do we need it?

Sky News: Genetics Breakthrough: Promising new era of ethnic diversity-informed tests and treatments

Social Media

Researchers from the @genome_gov-funded Human Pangenome Reference Consortium (@HumanPangenome) have completed a collection of new human reference genome sequences that much more accurately reflect global diversity! https://t.co/jaercozEem pic.twitter.com/ZkjSJH8NAE
— National Human Genome Research Institute (@genome_gov) May 10, 2023

Multimedia

The Human Pangenome

Credit: NHGRI and Massive Science

How to Sequence a Human Genome in 7 'Easy' Steps!

Credit: Ernesto Del Aguila III, NHGRI

Fully Sequencing the Human Genome

Credit: Harry Wedel, NHGRI

Animation: Filling in the Gaps of the Human Genome Sequence

Download the Animation

Credit: Ernesto Del Aguila III, NHGRI.

B-roll Footage of NIH Intramural Sequencing Center Lab

Infographic: Why do we need a new human pangenome reference?

The original human genome reference sequence was generated by the Human Genome Project in 2003. While this reference sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference sequence was just from one person. The previous human genome reference sequence is only 92% complete, with an estimated 8% of the human genome missing because of gaps in the sequence. The new human pangenome reference is more comprehensive and incorporates the missing 8% of the human genome sequence, adding over 100 million new bases.

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