(10 May 2023)

The work was led by the international Human Pangenome Reference Consortium (HPRC), a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH) and consisting of 14 institutes, including EMBL’s European Bioinformatics Institute (EMBL-EBI). (…)

The majority of the genomes used to create the human pangenome reference were collected as part of the 1000 genomes project, the largest public catalogue of human variation and genotype data from a wide range of populations. (…)

In order to understand the differences in the genes present across the individual genomes represented in the human pangenome, researchers in EMBL-EBI’s Ensembl team needed to map the high-quality annotations on the reference human genome generated as part of the GENCODE project, across the pangenome.