An Icelandic pangenome reference.

ABSTRACT: Reference bias is an issue that affects most genomic studies analysing short reads mapped to a reference genome^1,2. It can be mitigated by mapping to multiple haplotypes represented in a pangenome^3-5. Here we introduce two new methods to address reference bias: Emblask for pangenome construction and Weaver for mapping to pangenomes at scale. Emblask is a hybrid long- and short-read haplotype-resolved dual assembly pipeline for parent-offspring trio data. Using Emblask, we assembled 698 Icelandic haplotypes and added them to the Human Pangenome Reference Consortium (HPRC) pangenome⁴ to construct an Icelandic pangenome reference (HPRC-ICE) including 51.41 million small variants. We mapped the short reads of 57,630 Icelanders to HPRC-ICE with Weaver and called

SUBMITTER: Holley G 

PROVIDER: S-EPMC13645673 | biostudies-literature | 2026 Oct

REPOSITORIES: biostudies-literature