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D. Gudbjartsson

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Open access Aug 2026

An Icelandic pangenome reference.

Reference bias is an issue that affects most genomic studies analysing short reads mapped to a reference genome1,2. It can be mitigated by mapping to multiple haplotypes represented in a pangenome3-5. Here we introduce two new methods to address reference bias: Emblask for pangenome construction and Weaver for mapping...

Guillaume Holley, H. Eggertsson, Snaedis Kristmundsdottir et al. · 0 citations
Open access Jul 2026

Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms

This study provides the most comprehensive assessment of IBS genetics to date, demonstrating reproducible polygenic inheritance and linking IBS risk to convergent neurogastrointestinal and novel cardiometabolic mechanisms, highlight specific biological pathways and actionable mechanisms and outline translational opport...

Biagio Di Lorenzo, L. Camargo Tavares, Cristian Díaz-Muñoz et al. · 0 citations

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