ArticleScientific data2015
Sequence variants from whole genome sequencing a large group of Icelanders.
Article in Scientific data, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 8 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 8 syntheses or guidelines pooled it.
- GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.Communications biology · 2024Pooled it
- A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.Communications biology · 2021Pooled it
- Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor.Communications biology · 2021Pooled it
- A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.Communications biology · 2021Pooled it
- Pooled it
- Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.Nature communications · 2020Pooled it
- Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.Nature genetics · 2018Pooled it
- Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.Nature communications · 2018Pooled it
- CNValidatron: accurate and efficient validation of PennCNV calls using computer vision.BMC bioinformatics · 2026Article
- Results from the IceGut study: tracking the gut microbiome development from mothers and infants up to five years of age.mSphere · 2025Article
- Genomic landscape of the Great Steppe: Genetic variants in healthy Kazakh individuals.Scientific data · 2025Article
- CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision.bioRxiv : the preprint server for biology · 2025Article
- Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder.Nature genetics · 2025Article
- Complete human recombination maps.Nature · 2025Article
- Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.Nature communications · 2024Article
- Sequence variants affecting voice pitch in humans.Science advances · 2023Article
- FVC as an adaptive and accurate method for filtering variants from popular NGS analysis pipelines.Communications biology · 2022Article
- Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life science alliance · 2022Article
- Accuracy benchmark of the GeneMind GenoLab M sequencing platform for WGS and WES analysis.BMC genomics · 2022Article
- Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.Arteriosclerosis, thrombosis, and vascular biology · 2021Article
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have accumulated considerable data on the genetic makeup of the Icelandic population by sequencing the whole genomes of 2,636 Icelanders to depth of at least 10X and by chip genotyping 101,584 more. The sequencing was done with Illumina technology. The median sequencing depth was 20X and 909 individuals were sequenced to a depth of at least 30X. We found 20 million single nucleotide polymorphisms (SNPs) and 1.5 million insertions/deletions (indels) that passed stringent quality control. Almost all the common SNPs (derived allele frequency (DAF) over 2%) that we identified in Iceland have been observed by either dbSNP (build 137) or the Exome Sequencing Project (ESP) while only 60 and 20% of rare (DAF<0.5%) SNPs and indels in coding regions, the most heavily studied parts of the genome, have been observed in the public databases. Features of our variant data, such as the transition/transversion ratio and the length distribution of indels, are similar to published reports.
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