John Blangero

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

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

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

This study identifies a shared genetic factor underlying brain age gaps across 30 cohorts, finding 19 SNPs and associations with health traits.

The paper introduces dGAMLSS, a distributed algorithm for fitting GAMLSS models to construct population reference charts without sharing patient data.

This study identifies two ASD subgroups with distinct brain morphology using cross-cultural datasets, highlighting key brain regions associated with subgroup characteristics and autistic traits.

This study uses whole-genome sequence data from diverse participants to identify novel genetic loci associated with brain structural volumes, highlighting the importance of diverse cohorts in uncovering genetic architecture.

The paper creates lifespan reference curves for white matter microstructure using diffusion MRI data from multiple datasets and validates them with ApoE4 risk factor analysis.

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

The paper shows that phosphorylated CTCF binds the SIRT1 promoter under oxidative stress, activating a cardioprotective transcriptional program in cardiomyocytes.

HAPI-RECAP reconstructs parent genomes from full siblings and relatives, achieving high accuracy and enabling phenotypic analyses and pedigree reconstruction.

The paper investigates how the CCL2 rs13900 polymorphism affects mRNA stability and HuR binding, influencing CCL2 expression and disease susceptibility.

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 introduces a longitudinal dataset of school-age children and adolescents in China, detailing its design, sampling, and neuroimaging measurements.

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 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.

This study identifies 667 genetic loci associated with lipid species and links 186 of them to coronary artery disease through integrative lipidomics and genomics.

The paper introduces brain charts as a standardized resource for benchmarking brain morphology across the human lifespan using MRI data from a large and diverse cohort.

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 novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

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

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.