Author: Hannes P. Eggertsson

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Preprints

Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

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Recurrence of de novo mutations in families

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  • In genomics: 851
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Graphtyper: Population-scale genotyping using pangenome graphs

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  • In bioinformatics: 1,364
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Ratatosk – Hybrid error correction of long reads enables accurate variant calling and assembly

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  • Site-wide: 18,901
  • In bioinformatics: 2,260
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PopDel identifies medium-size deletions jointly in tens of thousands of genomes

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  • In bioinformatics: 4,199
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read_haps: using read haplotypes to detect same species contamination in DNA sequences

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  • Site-wide: 87,098
  • In bioinformatics: 7,787
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