Nicholas M. Rafaels

This paper develops a pipeline for translating type 1 diabetes polygenic risk scores into clinical use, showing they can distinguish type 1 from type 2 diabetes and identify high-risk individuals.

The paper develops gene expression prediction models for asthma-related tissues in African-ancestry populations and identifies 17 candidate causal asthma genes using transcriptome-wide association study.

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.

The paper describes the CCPM Biobank, a dual-purpose genomic resource linking health records and genomic data to support research and clinical applications.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

SAIGE-BRUSH provides a cloud-based, user-friendly GWAS tool with parallelization and data management features, enabling non-experts to perform genome-wide association studies efficiently.

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

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

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 identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.