Daniel E. Weeks

This study examines the effect of a population-specific variant on gene expression in adipose tissue of Samoan adults, identifying 22 differentially expressed genes.

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

The paper evaluates polygenic score transferability for lipid traits in Samoan populations using genome-wide imputed genotypes and finds meaningful performance for LDL-C with a genome-wide PRS-CS score.

This study conducts a GWAS of Native Hawaiians and Polynesian-ancestry populations to identify population-enriched genetic associations for cardiometabolic traits, confirming some variants and highlighting the need for larger cohorts.

This study finds that BDNF DNA methylation differs between children with traumatic brain injury and orthopedic injury, particularly in the acute phase.

This paper identifies eleven genome-wide suggestive loci and seven transcriptome-wide significant genes associated with AMH levels in Samoan women using GWAS and TWAS.

This study identifies DNA methylation sites associated with cognitive function in early-stage hormone receptor-positive breast cancer patients using epigenome-wide association analyses.

The paper constructs a Samoan-specific imputation reference panel, showing improved genotype imputation quality compared to existing panels for Samoan populations.

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 identifies a stop-gain variant in BTNL9 associated with lower HDL-C and higher triglycerides in Polynesian populations.

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.

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.

This paper introduces BayesRB, an extension of BayesR for dichotomous traits, showing improved SNP effect estimation and disease risk prediction compared to traditional methods.

The paper examines the direct and indirect effects of rs373863828 on type 2 diabetes and fasting glucose in Polynesians, finding BMI mediates part of its effect.

This study generates a murine model of the human CREBRFR457Q obesity-risk variant and finds it does not affect energy or glucose homeostasis under various nutritional stress conditions.

The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.

The paper describes a system for harmonizing phenotype data across multiple studies in the TOPMed program, enabling reproducible and shared phenotype data for over 80 studies.

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.

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 conducts genome-wide association analysis in Samoans to identify genetic variants associated with fasting serum lipid levels, finding both shared and Polynesian-specific associations.

The paper develops a DNA methylation QC protocol and compares blood and CSF methylation profiles in aSAH patients, finding low global correlation and suggesting blood is not a suitable surrogate for CSF.

This study finds that a missense variant in CREBRF is associated with increased height in Samoan adults and children.

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

The paper replicates an association between the CREBRF rs373863828 minor allele and increased BMI but reduced T2D risk in New Zealand Polynesian adults, similar to findings in Samoan populations.