Kari E. North

Type 2 diabetes genetics in 125,000 admixed adults from Mexico City

This study identifies 86 T2D GWAS associations in 125,000 admixed Mexican adults, including 21 novel signals, and highlights the role of common regulatory variation in the endocrine pancreas.

An Efficient Lasso Framework for Admixture-Aware Polygenic Scores

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

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

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.

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

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

Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci

The paper identifies genes associated with obesity risk loci by integrating genetic and transcriptomic data from blood and brain tissues.

Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities

This study identifies genetic subtypes of obesity that uncouple adiposity from cardiometabolic risks, revealing distinct biological pathways and protein associations.

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.

Molecular architecture of human atherosclerosis revealed through integrative human genetics

The paper integrates proteomics and transcriptomics with genetic analyses to identify molecular mechanisms and targets of coronary artery disease.

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

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies

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

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

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.

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype

This study identifies gene-environment interactions between excessive daytime sleepiness and genetic variants linked to obstructive sleep apnea severity, revealing novel therapeutic targets.

ClOneHORT: Approaches for Improved Fidelity in Generative Models of Synthetic Genomes

The paper introduces ClOneHORT, a method to generate synthetic genomes with high fidelity using deep generative models, achieving accurate results in downstream analyses.

Determinants of mosaic chromosomal alteration fitness

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

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.

Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium

The paper analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

Investigating gene-diet interactions impacting the association between macronutrient intake and glycemic traits

The paper identifies a gene-diet interaction modifying the association between macronutrient intake and glycemic traits, highlighting challenges in detecting such interactions due to measurement error and sample size.

Mosaic chromosomal alterations in blood across ancestries via whole-genome sequencing

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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.

Causal effects on complex traits are similar across segments of different continental ancestries within admixed individuals

The paper quantifies similarity in causal effects across local ancestries in admixed individuals and finds high genetic correlation (radmix=0.95) within individuals.

Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries

The paper identifies 1,000 gene-level associations and conserved pathway associations for 25 traits across seven ancestries using enrichment analyses on large-scale GWA data.