Marteinn T. Hardarson
A5039703593- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- CRISPR and Genetic Engineering
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Language and cultural evolution
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Genetic diversity and population structure
- Evolution and Genetic Dynamics
- RNA modifications and cancer
deCODE Genetics (Iceland)
2016-2025
Reykjavík University
2021-2023
Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations 200,435 DNMs. The resulting genetic map has resolution 682 base pairs. Crossovers exhibit mutagenic effect, with overrepresentation DNMs within 1 kilobase crossovers in males females. In females, higher rate is observed up to 40 kilobases crossovers, particularly for complex which...
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...
Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted analysis studies, although each has a relatively large impact on genome. Here, we present GraphTyper2, which uses pangenome graphs to genotype SVs and small using short-reads. Comparison syndip benchmark dataset shows that our SV genotyping sensitive variant segregation families demonstrates accuracy approach. We demonstrate incorporating public assembly...
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...
Abstract Understanding of sequence diversity is the cornerstone analysis genetic disorders, population genetics, and evolutionary biology. Here, we present an update our sequencing set to 15,220 Icelanders who sequenced average genome-wide coverage 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs 7,940,790 indels. Calling de novo mutations (DNMs) a formidable challenge given high false positive rate in datasets relative mutation rate. Here addressed this...
Abstract Gene promoter and enhancer sequences are bound by transcription factors depleted of methylated CpG sites (cytosines preceding guanines in DNA). The absence CpGs these typically correlates with increased gene expression, indicating a regulatory role for methylation. We used nanopore sequencing to determine haplotype-specific methylation rates 15.3 million units 7,179 whole-blood genomes. identified 189,178 where three or more proximal were unmethylated on at least one haplotype. A...
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...
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source genetic diversity. We generated LRS data on 3,622 Icelanders using Oxford Nanopore Technologies, and identified median 22,636 SVs per individual (a 13,353 insertions 9,474 deletions), spanning 10 Mb haploid genome. discovered set 133,886 reliably genotyped SV alleles imputed them into 166,281 individuals explore their effects diseases other traits. an association with rare (AF =...
The genetic basis of the human vocal system is largely unknown, as are sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity genome with vowel acoustics speech recordings from 12,901 Icelanders. We show how pitch vary across life span correlate anthropometric, physiological, cognitive traits. found have a heritable component discovered correlated common ABCC9 associate pitch. also adrenal gene expression cardiovascular By showing...
Abstract We describe the analysis of whole genome sequences (WGS) 150,119 individuals from UK biobank (UKB). This constitutes a set high quality variants, including 585,040,410 SNPs, representing 7.0% all possible human and 58,707,036 indels. The large variants allows us to characterize selection based on sequence variation within population through Depletion Rank (DR) score for windows along genome. DR shows that coding exons represent small fraction regions in subject strong conservation....
Meiotic recombination is the main driving force of human genetic diversity, along with mutations. Recombinations split into crossovers, separating large chromosomal regions originating from different homologous chromosomes, and non-crossovers (NCOs), where a small segment one chromosome embedded in region chromosome. NCOs are much less studied than mutations crossovers as short can only be detected at markers heterozygous transmitting parent, leaving most them undetectable.The detectable...
Abstract Microsatellites are polymorphic tracts of short tandem repeats (STRs) with one to six base-pair (bp) motifs and some the most markers in genome. Using 6,084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65.4) microsatellite de novo mutations (mDNMs) per offspring generation. Paternal mDNMs occur at longer repeats, while maternal affect more bp. increase by 0.97 0.90–1.04) 0.31 0.25–0.37) year father‘s mother‘s age conception, respectively. We found two independent...