Jennifer A. Smith

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

This study compares 11 epigenetic aging clocks using DNA methylation data from human tissues and cells, finding differences in CpG characteristics, tissue specificity, and gene network associations.

This paper introduces CoCoNet, a method that integrates GWAS data with gene co-expression networks to identify trait-relevant tissues and cell types, showing its application in neurological and autoimmune diseases.

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 genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

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

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

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 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.

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

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 study identifies 99 genetic loci associated with general cognitive function using data from 280,360 individuals, finding genes linked to brain structure and neurodegenerative disorders.

Polygenic scores built 434 ways in Health and Retirement Study (HRS) participants varied widely in variance explained and inter-score correlation; European-derived weights underperformed in non-Hispanic Blacks.