Cristen J. Willer

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

The paper improves rare variant association studies by using proteomics-informed large language models, identifying more gene-trait associations than existing methods.

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

The Michigan Genomics Initiative links genotypes with electronic clinical records in Michigan Medicine patients, showing higher disease prevalence and validating GWAS findings.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

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.

The paper introduces a method to improve genetic association studies by incorporating family disease history and addressing case-control imbalance, showing improved power and calibration.

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 conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

This paper identifies two novel genetic loci associated with ischemic stroke and finds sex and ancestry differences in their effects.

This study identifies 424 new loci associated with kidney function using GWAS data from over 1.2 million individuals and prioritizes 34 genes for further functional investigation.

The paper evaluates family history and polygenic scores as predictors for coronary artery disease and type 2 diabetes using the Trondelag Health Study and UK Biobank.

This study uses CRISPR screening to identify 35 genes that modify ACE2 surface abundance in HuH7 cells, revealing regulators of ACE2 expression and their impact on SARS-CoV-2 susceptibility.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study identifies three genetic loci associated with chronic widespread musculoskeletal pain, with the RNF123 locus replicated in independent cohorts.

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

The paper uses genome-scale CRISPR screening to identify genetic modifiers of LDL uptake in hepatocytes, finding several new genes involved in this process.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

This study identifies seven novel genetic loci for Alzheimer's disease using a large GWAS and highlights microglia and immune pathways as key contributors to disease pathology.

This paper conducts a genome-wide association study (GWAS) of skin and soft tissue infections (SSTIs), identifies genetic loci, and shows that BMI and smoking increase SSTI risk.

This paper introduces within-family Mendelian randomization methods to reduce biases from family structure and shows they yield different results compared to population-based analyses.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

SAIGE-GENE is a scalable generalized linear mixed model for region-based association tests in large cohorts, efficiently handling over 400,000 samples with controlled type I error rates.

This study identifies 42 genetic loci associated with excessive daytime sleepiness and links them to phenotypic subgroups and related traits.

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.

The paper identifies 57 genomic regions associated with insomnia symptoms, linking them to phototransduction, ubiquitination, and potential causal relationships with coronary heart disease and depression.