GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
2019 · Nature Communications · 221 citations
https://doi.org/10.1038/s41467-019-13341-9
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Ástrós Skúladóttir
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Ástrós Skúladóttir is an academic researcher from deCODE Genetics (Iceland). The author has contributed to research in topics: RNA Research and Splicing & Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases. The author has an h-index of 11, co-authored 23 publications.
ORCID: 0000-0002-5048-0933Papers by this author
worksRare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
2022 · Nature Communications · 56 citations
https://doi.org/10.1038/s41467-022-28167-1
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
2023 · Nature Genetics · 50 citations
https://doi.org/10.1038/s41588-023-01538-0
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
2022 · Nature Communications · 34 citations
https://doi.org/10.1038/s41467-022-29133-7
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis
2024 · Communications Biology · 17 citations
https://doi.org/10.1038/s42003-024-06207-4
A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
2021 · Scientific Reports · 15 citations
https://doi.org/10.1038/s41598-021-82736-w
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