Heather M. Highland

Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 Individuals

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.

Functionally Oriented Genetic Analyses Reveal Potential Transcriptomic and Neurological Mechanisms of Stuttering

This study identifies transcriptomic and neurological mechanisms of stuttering using GWAS, TWAS, MR, and neuroimaging analyses of large datasets.

Local ancestry modulates gene expression: shifting our understanding of genetic regulation and disease association within and across populations

The paper identifies ancestry-specific eQTL effects in Hispanic/Latino and African American populations, showing how local ancestry influences gene expression and disease risk.

Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.

This study integrates metabolomic and genetic data from the CARDIA study to identify novel variants associated with metabolite levels across diverse populations.

Genome-wide association study provides novel insight into the genetic architecture of severe obesity.

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

Cost-effective solutions for high-throughput enzymatic DNA methylation sequencing

The paper optimizes a reduced representation DNA methylation sequencing protocol for cost-effective, population-scale studies across species.

A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations

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.

Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations

Epigenome-wide association study meta-analysis of BMI in African American Adults

This study conducts an epigenome-wide association study (EWAS) meta-analysis of BMI in African American adults, identifying 208 significant CpGs and 54 DMRs associated with BMI, including novel and replicated findings.

Genome-wide association study reveals shared and distinct genetic architecture underlying fatty acid and bioactive oxylipin metabolites in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study conducts a GWAS on fatty acids and oxylipins in HCHS/SOL participants, identifying 19 genetic loci and shared/distinct genetic architecture.

Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics

This paper introduces HAMSTA, a method to estimate heritability from admixture mapping summary statistics while adjusting for ancestral stratification bias, and applies it to African American datasets.

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

Recovery of trait heritability from whole genome sequence data

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

Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study

This study identifies genetic variants associated with body fat distribution traits in Hispanics/Latinos and finds ancestry-specific associations.

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

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

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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.

Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

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

GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

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

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.