Pramod Anugu

The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

This study identifies 22 novel gene-sleep duration interaction loci for blood pressure traits across 811,405 individuals, highlighting distinct genetic influences of short and long sleep on cardiovascular health.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

This study identifies 17 genetic loci associated with sleep duration and lipid levels, offering potential druggable targets for dyslipidemia in individuals with sleep disturbances.

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

The paper examines the concordance and characteristics of mitochondrial heteroplasmic mutations in maternal pairs of European and African ancestry, finding higher concordance in close relatives and associations with age and nuclear genome regions.

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

This study evaluates cost-effective GWAS strategies combining sequencing and array genotyping to improve power and genomic coverage in diverse populations.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

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 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.