An Icelandic pangenome reference

TL;DR - New methods construct Icelandic haplotypes and map population-scale short reads to a pangenome reference. This reduces reference bias and improves variant discovery, including detection of novel pathogenic alleles.

• Improves mapping in genomic regions with low mappability.
• Reveals many variants missed by conventional reference-based approaches.
• Demonstrates the value of population-specific pangenomes for more comprehensive genetic analysis.