Pall I. Olason
A5023159887- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetic diversity and population structure
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Advanced Proteomics Techniques and Applications
- Cancer-related Molecular Pathways
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Forensic and Genetic Research
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- BRCA gene mutations in cancer
- Genomics and Chromatin Dynamics
- Genetic and phenotypic traits in livestock
- Multiple Myeloma Research and Treatments
- Autism Spectrum Disorder Research
- Microbial Metabolic Engineering and Bioproduction
- Genetics and Neurodevelopmental Disorders
- Herpesvirus Infections and Treatments
- Machine Learning in Bioinformatics
deCODE Genetics (Iceland)
2008-2025
Science for Life Laboratory
2015-2021
Uppsala University
2012-2021
Technical University of Denmark
2005-2007
University of Iceland
2003
A small number of rare, recurrent genomic copy variants (CNVs) are known to substantially increase susceptibility schizophrenia. As a consequence the low fecundity in people with schizophrenia and other neurodevelopmental phenotypes which these CNVs contribute, large effects on risk likely be rapidly removed from population by natural selection. Accordingly, such must frequently occur as de novo mutations. In sample 662 proband-parent trios, we found that rare CNV mutations were...
Unravelling the genomic landscape of divergence between lineages is key to understanding speciation. The naturally hybridizing collared flycatcher and pied are important avian speciation models that show pre- as well postzygotic isolation. We sequenced assembled 1.1-Gb genome, physically mapped assembly chromosomes using a low-density linkage map re-sequenced population samples each species. Here we species differentiation highly heterogeneous with approximately 50 'divergence islands'...
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families schizophrenia. We examined NRXN1, closely related NRXN2 NRXN3 genes, for copy number variants (CNVs) 2977 schizophrenia patients 33 746 controls from seven European populations (Iceland, Finland, Norway, Germany, The Netherlands, Italy UK) using microarray data. found 66 deletions 5 duplications including a de novo deletion: 12 2 occurred cases (0.47%) compared to 49 3...
Speciation is a continuous process during which genetic changes gradually accumulate in the genomes of diverging species. Recent studies have documented highly heterogeneous differentiation landscapes, with distinct regions elevated ("differentiation islands") widespread across genomes. However, it remains unclear processes drive evolution islands; how landscape evolves as speciation advances; and ultimately, islands are related to speciation. Here, we addressed these questions based on...
Detailed knowledge of how diversity in the sequence human genome affects phenotypic depends on a comprehensive and reliable characterization both sequences variation. Over past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome large cohorts with rich data1,2. Here we describe analysis 150,119 individuals UK Biobank3. This constitutes set high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% all...
Detailed linkage and recombination rate maps are necessary to use the full potential of genome sequencing population genomic analyses. We used a custom collared flycatcher 50 K SNP array develop high-density map with 37 262 markers assigned 34 groups in 33 autosomes Z chromosome. The best-order contained 4215 markers, total distance 3132 cM mean genetic between 0.12 cM. Facilitated by being designed include from most scaffolds, we obtained second-generation assembly that approaches...
High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge gap between genome diseases. Here we performed association studies Olink Explore 3072 data generated by UK Biobank Pharma Proteomics Project
Here we describe the SweGen data set, a comprehensive map of genetic variation in Swedish population. These represent basic resource for clinical genetics laboratories as well sequencing-based association studies by providing information on variant frequencies cohort that is matched to national patient cohorts. To select samples this study, first examined structure population using high-density SNP-array from nation-wide over 10 000 Swedish-born individuals included Twin Registry. A total...
<ns4:p>Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows WGS analyses poses major challenge many groups hampers scientific progress. Here we present Sarek, an open-source workflow detect germline variants somatic mutations based on data from WGS, whole-exome (WES), or gene panels. Sarek features (i) easy installation, (ii) robust portability across different computer...
Human recombination maps are a valuable resource for association and linkage studies crucial many inferences of population history natural selection. Existing maps1-5 based solely on cross-over (CO) recombination, omitting non-cross-overs (NCOs)-the more common form recombination6-owing to the difficulty in detecting them. Using whole-genome sequence data families, we estimate number NCOs transmitted from parent offspring derive complete, sex-specific including both COs. Mothers have fewer...
Profound knowledge of demographic history is a prerequisite for the understanding and inference processes involved in evolution population differentiation speciation. Together with new coalescent-based methods, recent availability genome-wide data enables investigation divergence at unprecedented depth. We combined two powerful approaches, full Approximate Bayesian Computation analysis (ABC) pairwise sequentially Markovian coalescent modeling (PSMC), to reconstruct split between avian...
<ns4:p>Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows WGS analyses poses major challenge many groups hampers scientific progress. Here we present Sarek, an open-source workflow detect germline variants somatic mutations based on data from WGS, whole-exome (WES), or gene panels. Sarek features (i) easy installation, (ii) robust portability across different computer...
Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) a technology that may be used to identify proportion the genomic variants (SVs) an individual single experiment. Even though SV callers have been extensively research detect mutations, potential usage within routine clinical diagnostics hindered by high computational costs, non-standard output format, limited support for various platforms...
Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) ~1 million controls from Northwestern Europe. searched outside the HLA-locus through effect on coding, mRNA expression in several tissues levels plasma proteins (SomaScan) did network analysis (Qiagen). Results found 25 sequence variants overall, 33 2 RA, altogether...
Abstract Migraine is a complex neurovascular disease with range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, aura (MA) without (MO). We identified four new MA-associated variants (in PRRT2 , PALMD ABO LRRK2 ) classified 13 MO-associated variants. Rare effects highlight three genes. A rare frameshift variant brain-expressed confers...
<ns4:p>Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) a technology that may be used to identify proportion the genomic variants (SVs) an individual single experiment. Even though SV callers have been extensively research detect mutations, potential usage within routine clinical diagnostics still limited. One well known, but not well-addressed problem number benign reference errors present...
Analyzing and storing data results from next-generation sequencing (NGS) experiments is a challenging task, hampered by ever-increasing volumes frequent updates of analysis methods tools. Storage computation have grown beyond the capacity personal computers there need for suitable e-infrastructures processing. Here we describe UPPNEX, an implementation such infrastructure, tailored to needs storage NGS in Sweden serving various labs multiple instruments major technology platforms. UPPNEX...
Abstract Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and some the most variants in genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65.4) microsatellite de novo mutations (mDNMs) per offspring generation, excluding bp (homopolymers) is 48.2 mDNMs 46.7–49.6). Paternal occur at longer than maternal ones, which turn larger a mean size 3.4 vs 3.1 for paternal ones. increase by 0.97 0.90–1.04) 0.31...