Barry I. Freedman

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

This study identifies 67 genetic loci associated with head size, finding strong overlaps with cancer pathways and genes, suggesting shared genetic mechanisms between head growth and cancer risk.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

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 performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

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 study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

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.

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 eQTLs in glomerular and tubulointerstitial kidney tissues from nephrotic syndrome patients, finds tissue-specific eQTLs, and integrates them with a GWAS to identify associated genes.

This study uses EMRs and GWAS data to map CKD progression trajectories in African Americans with type 2 diabetes, identifying high-risk and low-risk pathways linked to APOL1 genotypes.