Human Pangenome Reference

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

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.

Researchers are building a human ‘pangenome’ that would represent the entirety of human genetic variation. But not everyone is ready to sign on.

A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

Constructing genome graphs directly from genome assemblies overcomes single-reference bias.

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

A pangenome is a collection of DNA sequences that reveals genetic variation between individuals. Four scientists discuss the generation of a human pangenome, and what insights can be gained from it.

Various approaches for assembling DNA sequences were evaluated to establish the best way to generate high-quality reference genomes that, in the future, could be combined into a human ‘pangenome’. A combination approach that yielded the best outcome was then used to assemble both sets of an individual’s chromosomes.

Multi-genome assemblies called pangenomes can capture genetic diversity in a species, but researchers are still working out how best to build and explore them.