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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
(Journal article; Peer reviewed, 2021)Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer’s disease have been identified. ... -
Genome-Wide Copy Number Variant and High-Throughput Transcriptomics Analyses of Placental Tissues Underscore Persisting Child Susceptibility in At-Risk Pregnancies Cleared in Standard Genetic Testing
(Peer reviewed; Journal article, 2022)Several studies have shown that children from pregnancies with estimated first-trimester risk based on fetal nuchal translucency thickness and abnormal maternal serum pregnancy protein and hormone levels maintain a higher ... -
Genome-wide hydroxymethylation profiles in liver of female Nile tilapia with distinct growth performance
(Peer reviewed; Journal article, 2023)The mechanisms underlying the fast genome evolution that occurs during animal domestication are poorly understood. Here, we present a genome-wide epigenetic dataset that quantifies DNA hydroxymethylation at single nucleotide ... -
A genome-wide linkage map for the house sparrow (Passer domesticus) provides insights into the evolutionary history of the avian genome
(Peer reviewed; Journal article, 2020)The house sparrow is an important model species for studying physiological, ecological and evolutionary processes in wild populations. Here, we present a medium density, genome wide linkage map for house sparrow (Passer ... -
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
(Peer reviewed; Journal article, 2022)Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European ... -
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
(Journal article; Peer reviewed, 2019)Alzheimer’s disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci ... -
Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria
(Peer reviewed; Journal article, 2023)Background Urticaria is characterized by inappropriate mast cell degranulation leading to the development of wheals and/or angioedema. Twin and family studies indicate that there is a substantial heritable component to ... -
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
(Journal article; Peer reviewed, 2017)Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, ... -
Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT
(Peer reviewed; Journal article, 2022)Iron is essential for many biological processes, but iron levels must be tightly regulated to avoid harmful effects of both iron deficiency and overload. Here, we perform genome-wide association studies on four iron-related ... -
Genome-wide microRNA screening in Nile tilapia reveals pervasive isomiRs’ transcription, sex-biased arm switching and increasing complexity of expression throughout development
(Journal article; Peer reviewed, 2018)MicroRNAs (miRNAs) are key regulators of gene expression in multicellular organisms. The elucidation of miRNA function and evolution depends on the identification and characterization of miRNA repertoire of strategic ... -
Genome-wide Phenotypic Profiling Identifies and Categorizes Genes Required for Mycobacterial Low Iron Fitness
(Journal article; Peer reviewed, 2019)Iron is vital for nearly all living organisms, but during infection, not readily available to pathogens. Infectious bacteria therefore depend on specialized mechanisms to survive when iron is limited. These mechanisms make ... -
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults
(Journal article; Peer reviewed, 2017)Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and ... -
Genome-wide profiling of DNA 5-hydroxymethylcytosine during rat Sertoli cell maturation
(Journal article; Peer reviewed, 2017)Sertoli cells have dual roles during the cells’ lifetime. In the juvenile mammal, Sertoli cells proliferate and create the structure of the testis, and during puberty they cease to proliferate and take on the adult role ... -
Genome-wide risk prediction of common diseases across ancestries in one million people
(Peer reviewed; Journal article, 2022)Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast and prostate cancer, we performed ... -
Genome-Wide Transcript Profiling of Endosperm without Paternal Contribution Identifies Parent-of-Origin-Dependent Regulation of AGAMOUS-LIKE36
(Journal article; Peer reviewed, 2011)Seed development in angiosperms is dependent on the interplay among different transcriptional programs operating in the embryo, the endosperm, and the maternally-derived seed coat. In angiosperms, the embryo and the endosperm ... -
Genomes of Pleistocene Siberian Wolves Uncover Multiple Extinct Wolf Lineages
(Peer reviewed; Journal article, 2020)Extant Canis lupus genetic diversity can be grouped into three phylogenetically distinct clades: Eurasian and American wolves and domestic dogs.1 Genetic studies have suggested these groups trace their origins to a wolf ... -
Genomic adaptations and evolutionary history of the extinct scimitar-toothed cat, Homotherium latidens
(Journal article; Peer reviewed, 2020)Homotherium was a genus of large-bodied scimitar-toothed cats, morphologically distinct from any extant felid species, that went extinct at the end of the Pleistocene [1, 2, 3, 4]. They possessed large, saber-form serrated ... -
Genomic analyses show extremely perilous conservation status of African and Asiatic cheetahs (Acinonyx jubatus)
(Peer reviewed; Journal article, 2022)We live in a world characterized by biodiversity loss and global environmental change. The extinction of large carnivores can have ramifying effects on ecosystems like an uncontrolled increase in wild herbivores, which in ... -
Genomic and Transcriptomic Investigation of the Physiological Response of the Methylotroph Bacillus methanolicus to 5-Aminovalerate
(Peer reviewed; Journal article, 2021)The methylotrophic thermophile Bacillus methanolicus can utilize the non-food substrate methanol as its sole carbon and energy source. Metabolism of L-lysine, in particular its biosynthesis, has been studied to some detail, ... -
The genomic basis of the plant island syndrome in Darwin’s giant daisies
(Peer reviewed; Journal article, 2022)The repeated, rapid and often pronounced patterns of evolutionary divergence observed in insular plants, or the ‘plant island syndrome’, include changes in leaf phenotypes, growth, as well as the acquisition of a perennial ...