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Showing 1–12 of 12 results

Advanced filters: Author: Kristjan E Hjorleifsson Clear advanced filters

Detection of viral sequences at single-cell resolution identifies novel viruses associated with host gene expression changes

A workflow using conserved amino acid domains identifies viruses in sequence data at single-cell resolution.

Laura Luebbert
Delaney K. Sullivan
Lior Pachter
Research22 Apr 2025
Nature Biotechnology

P: 1-10
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

Here, the authors conduct a GWAS for autoimmune thyroid disease, finding 225 loci including a start codon variant in LAG3 that confers a 3.4-fold risk of autoimmune thyroid disease and reduces expression and plasma levels of LAG−3.

Saedis Saevarsdottir
Kristbjörg Bjarnadottir
Kari Stefansson
ResearchOpen Access09 Jul 2024
Nature Communications

Volume: 15, P: 1-12
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Genome-wide association analyses of migraine and its subtypes identify new susceptibility loci, including rare variants with large effects implicating PRRT2, SCN11A and KCNK5.

Gyda Bjornsdottir
Mona A. Chalmer
Kari Stefansson
ResearchOpen Access26 Oct 2023
Nature Genetics

Volume: 55, P: 1843-1853
Multiomics study of nonalcoholic fatty liver disease

Genome-wide analyses identify loci associated with nonalcoholic fatty liver disease, including rare, protective loss-of-function variants in MTARC1 and GPAM. Plasma proteomic analyses provide insight into proteins involved in disease pathogenesis.

Gardar Sveinbjornsson
Magnus O. Ulfarsson
Kari Stefansson
ResearchOpen Access24 Oct 2022
Nature Genetics

Volume: 54, P: 1652-1663
Distinction between the effects of parental and fetal genomes on fetal growth

Genome-wide association analyses using parental and offspring genotypes provide insights into fetal and maternal genetic effects on fetal growth. The results show that maternal and fetal genomes influence birth weight through distinct mechanisms.

Thorhildur Juliusdottir
Valgerdur Steinthorsdottir
Kari Stefansson
Research19 Jul 2021
Nature Genetics

Volume: 53, P: 1135-1142
Modular, efficient and constant-memory single-cell RNA-seq preprocessing

A preprocessing workflow for single-cell RNA-seq data achieves near-optimal speed.

Páll Melsted
A. Sina Booeshaghi
Lior Pachter
Research01 Apr 2021
Nature Biotechnology

Volume: 39, P: 813-818
Multiple transmissions of de novo mutations in families

Analysis of 1,007 sibling pairs from 251 families identifies 878 de novo mutations shared by siblings at 448 sites. Recurrence probability based on parental somatic mosaicism, sibling sharing, parent of origin, mutation type and genomic position can range from 0.011% to 28.5%.

Hákon Jónsson
Patrick Sulem
Kari Stefansson
Research05 Nov 2018
Nature Genetics

Volume: 50, P: 1674-1680
Whole genome characterization of sequence diversity of 15,220 Icelanders

Hákon Jónsson
Patrick Sulem
Kari Stefansson
ResearchOpen Access21 Sept 2017
Scientific Data

Volume: 4, P: 1-9
Parental influence on human germline de novo mutations in 1,548 trios from Iceland

Whole-genome sequencing data of 14,688 Icelanders, including 1,548 parent–offspring trios, show how the age and sex of parents affect the rate and spectrum of de novo mutations.

Hákon Jónsson
Patrick Sulem
Kari Stefansson
Research20 Sept 2017
Nature

Volume: 549, P: 519-522
kallisto, bustools and kb-python for quantifying bulk, single-cell and single-nucleus RNA-seq

Kallisto, bustools and kb-python are a set of tools for quantifying bulk, single-cell and single-nucleus RNA-seq. Together, this set of free, open-source software tools can produce gene expression quantification from raw sequencing reads.

Delaney K. Sullivan
Kyung Hoi (Joseph) Min
Lior Pachter
Protocols10 Oct 2024
Nature Protocols

Volume: 20, P: 587-607
Graphtyper enables population-scale genotyping using pangenome graphs

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
Research25 Sept 2017
Nature Genetics

Volume: 49, P: 1654-1660
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Erna Ivarsdottir et al. report a genome-wide association meta-analysis for age-related hearing loss in the Icelandic and UK populations. They identify 21 novel variants, 13 of which are rare, and reveal a genetic correlation between age-related hearing loss and tinnitus.

Erna V. Ivarsdottir
Hilma Holm
Kari Stefansson
ResearchOpen Access09 Jun 2021
Communications Biology

Volume: 4, P: 1-13