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

By Ting Wang, L. Antonacci-Fulton, Kerstin Howe, Heather A. Lawson, Julian K. Lucas, Adam M. Phillippy, A. Popejoy, Mobin Asri, Caryn Carson, Mark J. P. Chaisson and 28 more. Nature, 2022

392 citations recorded by the source corpus.

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. The Human Pangenome Reference Consortium aims to offer the highest quality and most complete human pangenome reference that provides diverse genomic representation across human populations.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/772d3c795067541b768fdf08ca01051cc73af257

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Citations in the corpus

A draft human pangenome reference (2022, methodology): “Here, we sequence and assemble a set of diverse individual genomes and present a draft human pangenome, the first release of the Human Pangenome Reference Consortium (HPRC) (Wang et al., 2022).”
NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads (2024, background): “Despite these successes, a single linear reference genome is insufficient to represent the entire genome sequence of a species, and there is an urgent need to construct pan-genomes for population genome studies [11– 13].”