Laura J. Rasmussen‐Torvik

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

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.

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.

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.

Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

Genome-wide polygenic score with APOL1 risk genotypes predicts chronic kidney disease across major continental ancestries

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

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.

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.

Trajectory analysis of cardiovascular phenotypes from biobank data uncovers novel genetic associations

The paper uses longitudinal biobank data to analyze genetic associations with cardiovascular phenotypes, identifying novel variants near WLS and MYO10 genes.

Multi-ancestry Genome- and Phenome-wide Association Studies of Diverticular Disease in Electronic Health Records with Natural Language Processing enriched phenotype algorithm

This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.

Pathogenic and uncertain genetic variants have clinical cardiac correlates in diverse biobank participants