Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–8 of 8 results
Advanced filters: Author: Eirikur Hjartarson Clear advanced filters

  • Kari Stefansson and colleagues report discovery of 13 variants with large effects on non-HDL cholesterol, LDL cholesterol, HDL cholesterol or triglyceride lipid fractions. They further show that, among these lipid fractions, the non-HDL cholesterol genetic risk score associates most strongly with coronary disease and confers risk beyond that of LDL cholesterol and that, after accounting for non-HDL cholesterol, neither HDL cholesterol nor triglyceride genetic risk scores associate with coronary disease.

    • Anna Helgadottir
    • Solveig Gretarsdottir
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 48, P: 634-639

  • Kari Stefansson and colleagues report the whole-genome sequencing of 2,636 individuals from Iceland to a median of 20× coverage, providing a valuable genomic resource for this population isolate. They characterize patterns of genetic variation and population structure and demonstrate the usefulness of this resource for genetic discovery for several disease phenotypes.

    • Daniel F Gudbjartsson
    • Hannes Helgason
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 47, P: 435-444

  • Patrick Sulem, Hannes Helgason and colleagues identify homozygous and compound heterozygous loss-of-function variants of minor allele frequency <2% in 7.7% of the genotyped Icelandic population. Under transmission of some of these variants from heterozygous parents provides evidence that they are actually deleterious.

    • Patrick Sulem
    • Hannes Helgason
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 47, P: 448-452

  • Patrick Sulem, Daniel Gudbjartsson, Bragi Walters and colleagues identify two low-frequency variants associated with serum uric acid levels and gout in the Icelandic population. The variants were discovered by whole-genome sequencing and are associated with two- to threefold differences in disease risk.

    • Patrick Sulem
    • Daniel F Gudbjartsson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 43, P: 1127-1130

  • Graphtyper is a fast and scalable method for variant genotyping that aligns short-read sequence data to a pangenome. Graphtyper was able to accurately genotype ∼90 million sequence variants in the whole genomes of ∼28,000 Icelanders, including those in six HLA genes.

    • Hannes P Eggertsson
    • Hakon Jonsson
    • Bjarni V Halldorsson
    Research
    Nature Genetics
    Volume: 49, P: 1654-1660