Blar i Department of Clinical Science på tidsskrift "Nature Communications"
Viser treff 1-20 av 32
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Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation
(Peer reviewed; Journal article, 2019-06-03)Accumulating evidence from genome wide association studies (GWAS) suggests an abundance of shared genetic influences among complex human traits and disorders, such as mental disorders. Here we introduce a statistical tool, ... -
Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
(Peer reviewed; Journal article, 2018-05-23)Recent advances in optical technologies such as multi-photon microscopy and optogenetics have revolutionized our ability to record and manipulate neuronal activity. Combining optical techniques with electrical recordings ... -
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
(Journal article; Peer reviewed, 2021)Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ... -
Distinct receptor binding domain IgG thresholds predict protective host immunity across SARS-CoV-2 variants and time
(Journal article; Peer reviewed, 2023)SARS-CoV-2 neutralising antibodies provide protection against COVID-19. Evidence from early vaccine trials suggested binding antibody thresholds could serve as surrogate markers of neutralising capacity, but whether these ... -
The DNA methylome of cervical cells can predict the presence of ovarian cancer
(Journal article; Peer reviewed, 2022)The vast majority of epithelial ovarian cancer arises from tissues that are embryologically derived from the Müllerian Duct. Here, we demonstrate that a DNA methylation signature in easy-to-access Müllerian Duct-derived ... -
Early response evaluation by single cell signaling profiling in acute myeloid leukemia
(Journal article; Peer reviewed, 2023)Aberrant pro-survival signaling is a hallmark of cancer cells, but the response to chemotherapy is poorly understood. In this study, we investigate the initial signaling response to standard induction chemotherapy in a ... -
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
(Journal article; Peer reviewed, 2023)Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery ... -
The genetic architecture of human brainstem structures and their involvement in common brain disorders
(Journal article, 2020)Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, ... -
The genetic architecture of sporadic and multiple consecutive miscarriage
(Journal article; Peer reviewed, 2020)Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ... -
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
(Journal article; Peer reviewed, 2020)Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these ... -
Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
(Journal article; Peer reviewed, 2022)Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of ... -
Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth
(Peer reviewed; Journal article, 2019-10-01)Infant and childhood growth are dynamic processes with large changes in BMI during development. By performing genome-wide association studies of BMI at 12 time points from birth to eight years (9286 children, 74,105 ... -
GPCR-specific autoantibody signatures are associated with physiological and pathological immune homeostasis
(Peer reviewed; Journal article, 2018-12-06)Autoantibodies have been associated with autoimmune diseases. However, studies have identified autoantibodies in healthy donors (HD) who do not develop autoimmune disorders. Here we provide evidence of a network of ... -
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility
(Journal article; Peer reviewed, 2021)Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ... -
Identification of biomarkers for glycaemic deterioration in type 2 diabetes
(Journal article; Peer reviewed, 2023)We identify biomarkers for disease progression in three type 2 diabetes cohorts encompassing 2,973 individuals across three molecular classes, metabolites, lipids and proteins. Homocitrulline, isoleucine and 2-aminoadipic ... -
Identification of nine new susceptibility loci for endometrial cancer
(Peer reviewed; Journal article, 2018-08-09)Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ... -
Identification of susceptibility pathways for the roleof chromosome 15q25.1 in modifying lung cancerrisk
(Peer reviewed; Journal article, 2018-08-13)Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 ... -
Integrated analysis of cervical squamous cell carcinoma cohorts from three continents reveals conserved subtypes of prognostic significance
(Journal article; Peer reviewed, 2022)Human papillomavirus (HPV)-associated cervical cancer is a leading cause of cancer deaths in women. Here we present an integrated multi-omic analysis of 643 cervical squamous cell carcinomas (CSCC, the most common histological ... -
Interplay between human STING genotype and bacterial NADase activity regulates inter-individual disease variability
(Journal article; Peer reviewed, 2023)Variability in disease severity caused by a microbial pathogen is impacted by each infection representing a unique combination of host and pathogen genomes. Here, we show that the outcome of invasive Streptococcus pyogenes ... -
Modeling assortative mating and genetic similarities between partners, siblings, and in-laws
(Journal article; Peer reviewed, 2022)Assortative mating on heritable traits can have implications for the genetic resemblance between siblings and in-laws in succeeding generations. We studied polygenic scores and phenotypic data from pairs of partners ...