First human ‘pangenome’ reference draft aims to catalog genetic diversity

Amazing stuff! We still have not achieved a full and complete human genome map or catalog! Hopefully, we are getting closer! 😊

Unfortunately, exaggerated or an obsession with potential ethical concerns seem to threaten or dealy the project to some extent! Key word e.g. "equitable"! In the end, I bet it is very easy to find happy and diverse volunteers from around the world to have their genome analyzed! Move on please!

"More than 20 years after the first draft genome from the landmark Human Genome Project was released, researchers have published a draft human ‘pangenome’ — a snapshot of what is poised to become a new reference for genetic research that captures more of human diversity than has been previously available. ...
The draft genome, published in Nature on 10 May, was produced by the Human Pangenome Reference Consortium. Launched in 2019, the international project aims to map the entirety of human genetic variation, to create a comprehensive reference against which geneticists will be able to compare other sequences. Such a reference would aid studies investigating potential links between genes and disease. ...
The draft pangenome follows the 2022 publication of the first complete sequence of the human genome, which filled gaps that had been left by the original Human Genome Project. But unlike the original draft human genome and its successor, both of which were derived mostly from the DNA of just one person, the draft pangenome represents a collection of sequences from a diverse selection of 47 people from around the globe, including individuals from Africa, the Americas, Asia and Europe. ...
The progress we should be striving for, however, is the equitable engagement of under-represented communities in this work from the ground up,” ...
the pangenome consortium is hoping to recruit new study participants as part of its effort to maximize diversity among the planned 350 genomes. ..."

From the abstract:

"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. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample."

First human ‘pangenome’ aims to catalogue genetic diversity Researchers release draft results from an ongoing effort to capture the entirety of human genetic variation.

A draft human pangenome reference (open access)

Collaboration Map

Initial Sampling Effort

The HPRC generates sequencing data, creates assemblies and pangenomes

Fig. 1: Presenting 47 accurate and near-complete diverse diploid human genome assemblies.

Fig. 5: Visualizing complex pangenome loci.