Author

Helga Ingimundardóttir

deCODE Genetics (Iceland)ORCID 0000-0002-2780-3546Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:genome assembly· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bjarni V. HalldórssoniD· 2 shared Doruk BeyteriD· 2 shared Guillaume HolleyiD· 2 shared Hannes P. EggertssoniD· 2 shared Snædís KristmundsdóttiriD· 2 shared Aðalbjörg Jónasdóttir· 1 shared Agnar HelgasoniD· 1 shared Áslaug Jónasdóttir· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Bjarni V. HalldórssonORCID

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2 papers

Recent·Most cited

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

Doruk Beyter, Helga Ingimundardóttir, Ásmundur Oddsson, Hannes P. Eggertsson, Eyþór Björnsson, Hákon Jónsson, Bjarni A. Atlason, Snædís Kristmundsdóttir, Svenja Mehringer, Marteinn Thor Hardarson, Sigurjon Axel Gudjonsson, Droplaug N. Magnúsdóttir, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Ragnar P. Kristjansson, , Kāri Stefánsson

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

Nature Genetics · May 10, 2021Peer-reviewedGenetics

Ratatosk - Hybrid error correction of long reads enables accurate variant calling and assembly

Guillaume Holley, Doruk Beyter, Helga Ingimundardóttir, Peter Loof Møller, Snædís Kristmundsdóttir, Hannes P. Eggertsson, Bjarni V. Halldórsson

Ratatosk corrects long read errors using a de Bruijn graph and accurate short reads, improving variant calling and assembly accuracy.

Genome biology · Jan 8, 2021Peer-reviewedBioinformatics