Draft human pangenome reference published
The Human Pangenome Reference Consortium published a draft human pangenome reference in Nature, built from 47 ancestrally diverse individuals. The draft includes 94 phased haplotype assemblies covering more than 99 percent of expected sequence, adding 119 million base pairs beyond the existing GRCh38 reference genome. Running short-read sequence data against the new reference cut small variant discovery errors by 34 percent and roughly doubled structural variant detection, up 104 percent per haplotype.
A reference genome built from a wider range of people can cut down on blind spots baked into the current standard and turn up variants that earlier workflows missed across diverse populations.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].