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Article
Open AccessMetabolomics 2023 workshop report: moving toward consensus on best QA/QC practices in LC–MS-based untargeted metabolomics
During the Metabolomics 2023 conference, the Metabolomics Quality Assurance and Quality Control Consortium (mQACC) presented a QA/QC workshop for LC–MS-based untargeted metabolomics.
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Article
Open AccessClinical associations with a polygenic predisposition to benign lower white blood cell counts
Polygenic variation unrelated to disease contributes to interindividual variation in baseline white blood cell (WBC) counts, but its clinical significance is uncharacterized. We investigated the clinical conse...
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Article
Open AccessEstablishing a framework for best practices for quality assurance and quality control in untargeted metabolomics
Quality assurance (QA) and quality control (QC) practices are key tenets that facilitate study and data quality across all applications of untargeted metabolomics. These important practices will strengthen thi...
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Article
Open AccessSelection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can be implemented in the clinic, including reduced predictive performance of PRS...
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Article
Metabolomics 2022 workshop report: state of QA/QC best practices in LC–MS-based untargeted metabolomics, informed through mQACC community engagement initiatives
The Metabolomics Quality Assurance and Quality Control Consortium (mQACC) organized a workshop during the Metabolomics 2022 conference.
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Article
Open AccessGenetically adjusted PSA levels for prostate cancer screening
Prostate-specific antigen (PSA) screening for prostate cancer remains controversial because it increases overdiagnosis and overtreatment of clinically insignificant tumors. Accounting for genetic determinants ...
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Article
Open AccessGenetic susceptibility for autoimmune diseases and white blood cell count
Some autoimmune (AI) conditions affect white blood cell (WBC) counts. Whether a genetic predisposition to AI disease associates with WBC counts in populations expected to have low numbers of AI cases is not kn...
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Article
Open AccessLimited clinical utility for GWAS or polygenic risk score for postoperative acute kidney injury in non-cardiac surgery in European-ancestry patients
Prior studies support a genetic basis for postoperative acute kidney injury (AKI). We conducted a genome-wide association study (GWAS), assessed the clinical utility of a polygenic risk score (PRS), and estima...
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Article
A metabolome and microbiome wide association study of healthy eating index points to the mechanisms linking dietary pattern and metabolic status
Healthy eating index (HEI), a measure of diet quality, associates with metabolic health outcomes; however, the molecular basis is unclear. We conducted a multi-omic study to examine whether HEI associates with...
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Article
Open AccessHeart failure clinical care analysis uncovers risk reduction opportunities for preserved ejection fraction subtype
Heart failure (HF) has no cure and, for HF with preserved ejection fraction (HFpEF), no life-extending treatments. Defining the clinical epidemiology of HF could facilitate earlier identification of high-risk ...
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Article
Open AccessThe genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene
Inflammation increases the risk of cardiometabolic disease. Delineating specific inflammatory pathways and biomarkers of their activity could identify the mechanistic underpinnings of the increased risk. Plasm...
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Article
Open AccessGenetic risk for major depressive disorder and loneliness in sex-specific associations with coronary artery disease
Major depressive disorder (MDD) and loneliness are phenotypically and genetically correlated with coronary artery disease (CAD), but whether these associations are explained by pleiotropic genetic variants or ...
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Article
Open AccessClinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease
Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are l...
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Article
Open AccessLossless integration of multiple electronic health records for identifying pleiotropy using summary statistics
Increasingly, clinical phenotypes with matched genetic data from bio-bank linked electronic health records (EHRs) have been used for pleiotropy analyses. Thus far, pleiotropy analysis using individual-level EH...
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Article
Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC–MS based untargeted metabolomics practitioners
The metabolomics quality assurance and quality control consortium (mQACC) evolved from the recognized need for a community-wide consensus on improving and systematizing quality assurance (QA) and quality contr...
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Article
Open AccessThe polygenic architecture of left ventricular mass mirrors the clinical epidemiology
Left ventricular (LV) mass is a prognostic biomarker for incident heart disease and all-cause mortality. Large-scale genome-wide association studies have identified few SNPs associated with LV mass. We hypothe...
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Article
Open AccessA study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers
Defining the full spectrum of human disease associated with a biomarker is necessary to advance the biomarker into clinical practice. We hypothesize that associating biomarker measurements with electronic heal...
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Article
Open AccessGenome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer
Prostate-specific antigen (PSA) levels have been used for detection and surveillance of prostate cancer (PCa). However, factors other than PCa—such as genetics—can impact PSA. Here we present findings from a g...
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Article
Open AccessIdentifying genetically driven clinical phenotypes using linear mixed models
We hypothesized that generalized linear mixed models (GLMMs), which estimate the additive genetic variance underlying phenotype variability, would facilitate rapid characterization of clinical phenotypes from ...
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Article
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
When applied in large scale to electronic medical record data, the PheWAS approach replicates GWAS associations and reveals potentially new pleiotropic associations.
