Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2023
Höfundar / Authors: Hannes Pétur Eggertsson (1)
Starfsvettvangur / Affiliations: 1. Íslensk erfðagreining / deCODE Genetics
Kynnir / Presenter: Hannes Pétur Eggertsson
Analysis studies of human sequences are prominently based on short-read mapped to a single reference genome. These analysis are biased towards the reference allele. The Human Pangenome Reference Consortium (HPRC) has constructed human reference pangenome that are enriched with many variations and sequences that fill gaps in the reference genome. We have created a pipeline to de novo assemble 306 Icelandic haplotypes, which we added to the HPRC Year 1 data to construct an Icelandic reference pangenome. Furthermore, we have developed weaver, a short-read mapper that supports pangenome reference graphs.
We show that weaver is fast, fits easily into existing pipelines and improves variant calling accuracy. Our results iterate the need to address the biases from using a linear reference.