Have you ever wondered how your genetic make-up is different from your neighbor’s? The National Human Genome Research Institute (NHGRI)-funded Human Pangenome Research Consortium (HPRC) has built an initial version of a pangenome reference – a collection of new human reference genome sequences representing 47 individuals from across the globe. Pangenome graphs relate the sequences from the different genomes to one another. The pangenome allows researchers to compare these DNA sequences and get a more detailed view of the range of human genetic variation. This is the first step toward the HPRC’s goal of building a pangenome reference comprised of the genomes of 350 individuals from diverse genetic backgrounds.
Data associated with the HPRC pangenome reference is available at NCBI. You can easily retrieve all the genomes that are included in the pangenome through NCBI Datasets, downloading a data package containing all or a desired subset of assembly sequences and associated metadata. As more genomes are sequenced for the HPRC reference and deposited in GenBank, you’ll find them here as well. Gain access to the genome graphs connecting the assemblies of the first pangenome reference through the European Nucleotide Archive (ENA), accessible via BioProject.
Here is an example of genome data related to the HPRC project available at NCBI.
HG002 was one of the first genome samples generated for the pangenome and was annotated by NCBI. Explore the gene content of its two parental haplotypes in the Genome Data Viewer (GDV) (paternal: HG002.pat.cur.20211005, maternal: HG002.mat.cur.20211005) and whole-genome alignments to GRCh38 in the Comparative Genome Viewer (CGV) (Figure 1). You can also download the corresponding files from FTP.
Did you know? NCBI contributed to the HPRC pangenome reference by evaluating the quality of early versions of the included genomes. We evaluated their completeness, correctness, and base accuracy using our Assembly QC service.
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