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Recommendations for return of secondary genomic findings in observational cohort studies
The return of secondary genomic findings (ROSF) to participants in observational cohort studies has evolved from a topic of debate to an accepted...
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Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
Genome sequencing is the first-line diagnostic method for primary mitochondrial diseases (PMDs), yet its effectiveness is limited by variants of...
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Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk
Clonal hematopoiesis of indeterminate potential (CHIP) and mosaic chromosomal alterations (mCAs) are two types of clonal hematopoiesis (CH)...
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The effect of delays in cancer surgery due to the COVID-19 pandemic on cancer resectability and postoperative mortality in different tumor entities
BackgroundDuring the COVID-19 pandemic, prioritization of COVID-19 patients led to delays in oncological surgery, potentially impacting patient...
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Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants
BackgroundWhole genome sequence (WGS) data in multi-ancestry samples supports discovery of low-frequency or population-specific genetic variants...
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cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions
Understanding how rare genetic variants influence complex traits remains a major challenge, particularly when these variants lie in noncoding regions...
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Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy
We analyze 10,986 participants (mean age 77; 63% women; 54% non-White) across seven U.S. cohorts to study the relationship between mitochondrial DNA...
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Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation
We present a whole-blood isoform ratio QTL (irQTL) resource by analyzing genome-wide isoform-to-gene expression ratios using sequencing data. In...
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Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals
BackgroundRare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits....
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Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation
With age, hematopoietic stem cells can acquire somatic mutations in leukemogenic genes that confer a proliferative advantage in a phenomenon termed...
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Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele
Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass...
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Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk
BackgroundPrevious work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown...
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A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing (WGS) studies have improved our understanding of the contributions of coding and noncoding rare variants to...
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Same data, different analysts: variation in effect sizes due to analytical decisions in ecology and evolutionary biology
Although variation in effect sizes and predicted values among studies of similar phenomena is inevitable, such variation far exceeds what might be...
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Rare variant contribution to the heritability of coronary artery disease
Whole genome sequences (WGS) enable discovery of rare variants which may contribute to missing heritability of coronary artery disease (CAD). To...
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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height
The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory...
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Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in hematopoietic stem cells confer a selective advantage and drive...
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Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores
We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical...
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Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated...
