Jonathan Marten
YOU?
Author Swipe
View article: A methodological approach for inferring causal relationships from opinions and news-derived events with an application to climate change
A methodological approach for inferring causal relationships from opinions and news-derived events with an application to climate change Open
Social media platforms like Twitter (now X) provide a global forum for discussing ideas. In this work, we propose a novel methodology for detecting causal relationships in online discourse. Our approach integrates multiple causal inference…
View article: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes Open
The biological mechanisms through which most nonprotein-coding genetic variants affect disease risk are unknown. To investigate gene-regulatory mechanisms, we mapped blood gene expression and splicing quantitative trait loci (QTLs) through…
View article: Misexpression of inactive genes in whole blood is associated with nearby rare structural variants
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants Open
Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited understanding of its wider prevalence and mechan…
View article: Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries Open
View article: Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration Open
Both short and long sleep are associated with an adverse lipid profile, likely through different biological pathways. To elucidate the biology of sleep-associated adverse lipid profile, we conduct multi-ancestry genome-wide sleep-SNP inter…
View article: Meta-analysis of exome array data identifies six novel genetic loci for lung function
Meta-analysis of exome array data identifies six novel genetic loci for lung function Open
Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and thre…
View article: Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity Open
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wi…
View article: A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure Open
Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene–s…
View article: Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries Open
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for…
View article: Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes
Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes Open
Summary The biological mechanisms through which most non-protein-coding genetic variants affect disease risk are unknown. To investigate the gene-regulatory cascades that ensue from these variants, we mapped blood gene expression and splic…
View article: Misexpression of inactive genes in whole blood is associated with nearby rare structural variants
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants Open
Gene misexpression is the aberrant transcription of a gene in a context where it is usually inactive. Despite its known pathological consequences in specific rare diseases, we have a limited understanding of its wider prevalence and mechan…
View article: Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci Open
Introduction: Educational attainment, widely used in epidemiologic studies as a surrogate for socioeconomic status, is a predictor of cardiovascular health outcomes. Methods: A two-stage genome-wide meta-analysis of low-density lipoprotein…
View article: Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization Open
Background Genome-wide association studies for glycemic traits have identified hundreds of loci associated with these biomarkers of glucose homeostasis. Despite this success, the challenge remains to link variant associations to genes, and…
View article: Author Correction: Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
Author Correction: Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets Open
View article: Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets Open
View article: Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-related disease risk and novel therapeutic targets
Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-related disease risk and novel therapeutic targets Open
Circulating proteins play key roles in inflammation and a broad range of diseases. To identify genetic influences on inflammation-related proteins, we conducted a genome-wide protein quantitative trait locus (pQTL) study of 91 plasma prote…
View article: Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals Open
View article: The Carbon Footprint of Bioinformatics
The Carbon Footprint of Bioinformatics Open
Bioinformatic research relies on large-scale computational infrastructures which have a nonzero carbon footprint but so far, no study has quantified the environmental costs of bioinformatic tools and commonly run analyses. In this work, we…
View article: Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases Open
View article: The carbon footprint of bioinformatics
The carbon footprint of bioinformatics Open
Bioinformatic research relies on large-scale computational infrastructures which have a non-zero carbon footprint. So far, no study has quantified the environmental costs of bioinformatic tools and commonly run analyses. In this study, we …
View article: Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts
Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts Open
View article: Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction Open
View article: Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose
Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose Open
Smoking is a potentially causal behavioral risk factor for type 2 diabetes (T2D), but not all smokers develop T2D. It is unknown whether genetic factors partially explain this variation. We performed genome-environment-wide interaction stu…
View article: Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci Open
View article: Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults
Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults Open
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 BMI-adjusted wais…
View article: Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels Open
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely …
View article: Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension Open
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296…
View article: Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits Open
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, we use GWAS data fr…
View article: Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases Open
Summary Paragraph Common human diseases are frequently polygenic in architecture, comprising a large number of risk alleles with small effects spread across the genome 1–3 . Polygenic scores (PGSs) aggregate these alleles into a metric whi…
View article: Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration Open