Jerome I. Rotter

This study evaluates methods for estimating mitochondrial DNA copy number, finding that whole genome sequencing provides more accurate associations with known correlates than qPCR or microarray platforms.

The paper decomposes mutation rate and spectra variation in human germline using blind source separation, identifying nine processes including those related to DNA damage and replication timing.

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

The paper identifies germline genetic variants associated with clonal hematopoiesis of indeterminate potential (CHIP) using whole genome sequences from the TOPMed program.

The paper identifies genetic variants affecting HbA1c levels in multi-ancestry cohorts, showing ancestry-specific impacts on diabetes diagnosis via HbA1c.

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

This study conducts a GWAS on QRS duration in Hispanic/Latino populations, identifying two new loci and confirming most previously known SNPs.

The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.

This study identifies nine novel DNA methylation sites associated with fasting glucose and insulin levels by integrating cross-omics data from multiple cohorts.

The paper identifies DNA methylation sites associated with daytime sleepiness in African Americans using epigenome-wide association analysis in the Multi-Ethnic Study of Atherosclerosis.

This paper evaluates the causal effect of fibrinogen on coronary heart disease using Mendelian randomization, finding a small effect with multi-variant methods but not with single variant approaches.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

The paper identifies 49 novel blood lipid loci associated with gene-sleep interactions in 126,926 individuals across 5 ancestry groups, with gene-short-sleep interactions explaining 4.25% of triglyceride variance.

The paper introduces SMMAT, a variant-set mixed model association test for continuous and binary traits in large-scale WGS studies, showing it controls type I error rates and applies to population structured and related samples.

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

This paper conducts a genome-wide meta-analysis of chronic back pain in 158,025 individuals, identifying three genetic loci associated with the condition.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper investigates genetic architecture of gene expression across diverse populations, finding that predictive performance varies due to allele frequency differences and highlighting the need for diverse population sampling.

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.