Genevieve L. Wojcik

The paper examines how social determinants of health modify polygenic risk scores for cardiometabolic diseases and shows that integrating social and genetic factors improves disease prediction.

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.

PennPRS provides a cloud platform for training polygenic risk scores without individual-level data, validated with simulations and real data across 6,000 phenotypes.

The paper analyzes gene expression and splicing variation across diverse human populations, identifying population-specific and shared genetic regulatory elements.

This paper shows that using a genome graph instead of a linear reference improves HBV sequence alignment and sample-specific consensus sequence construction.

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

This study identifies two genetic regions associated with astrovirus diarrhea susceptibility in Bangladeshi infants through a genome-wide association study.

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 paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

The paper identifies HLA variants associated with HBV vaccine response in Bangladeshi infants and links them to vaccine escape mechanisms.

This study shows that using population-based common controls in GWAS of infectious diseases can lead to biased effect estimates and spurious associations due to unaccounted pathogen exposure.

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.

This study identifies clotting factor genes PROZ, F7, and F10 on chromosome 13 as associated with preeclampsia in high-altitude Andean families.

This paper benchmarks statistical methods for analyzing parent-child dyads in genetic association studies, finding that some methods better control type I error and power compared to others.

This study identifies loci under selection in Latin American admixed populations, distinguishing between pre- and post-admixture selection, and finds signals related to immunity and energy metabolism.

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.

This study links genomic data with EHRs to identify health outcomes enriched in sub-populations, revealing both known and novel associations.

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

This paper conducts a GWAS to identify genetic variants associated with symptomatic cryptosporidiosis in infants, finding a strong association with an intronic SNP in PRKCA.

This study conducts a sex-stratified genome-wide association study of tuberculosis, identifying sex-specific genetic interactions and candidate genes.

The paper introduces a standardized biogeographic grouping system for pharmacogenetic research to improve consistency in reporting allele frequency variability across populations.

SNAPPY assigns Y-chromosome haplogroups using genotype data by evaluating haplotypes in a database and considering phylogenetic support and parsimony.

The paper conducts a GWAS in non-European populations, identifies new genetic loci, and highlights the importance of diverse cohorts for understanding complex traits.

This paper develops a method to select tag SNPs for multi-ethnic association studies, showing improved imputation power by considering population-specific linkage disequilibrium and demographic impacts.

This study identifies genetic variants associated with Entamoeba histolytica infection and links them to inflammatory bowel disease susceptibility.

This paper analyzes ancient genomes from North Africa to show prehistoric migrations brought genetic influences from both the Levant and Europe to the Maghreb.

The paper identifies a common collagen disease in Puerto Ricans using identity-by-descent mapping and genomic data from a health system.

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

This study shows that genetic risk scores from European GWAS are biased when applied to other populations due to demographic history, highlighting the need for more diverse data.