Myriam Fornage

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.

The paper introduces the expected polygenic risk score (ePRS) framework to address population stratification in polygenic risk score analysis by modeling ancestral makeup, showing it provides equitable risk quantification across diverse populations.

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

This study integrates metabolomic and genetic data from the CARDIA study to identify novel variants associated with metabolite levels across diverse populations.

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 paper identifies a novel genetic locus associated with olfactory dysfunction through a genome-wide association study meta-analysis and shows causal links to various health outcomes.

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.

This study examines the longitudinal relationship between epigenetic aging and cognitive aging in Hispanic/Latino adults, finding that increased age acceleration is linked to lower cognitive function and higher risk of MCI.

This paper introduces a deep learning framework to analyze fractional anisotropy images, identifying genetic variants associated with white matter microstructure and linking them to neurological disorders.

ERICH-GENE collects and analyzes genomic and neuroimaging data from over 10,000 multi-ethnic ICH cases to identify genetic risk factors and trans-ethnic variation in ICH.

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

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

This study uses whole genome sequence data from the ADSP to identify 17 significant variants in five genomic regions associated with Alzheimer's disease.

This study identifies three novel genetic loci associated with brain arterial diameters through a genome-wide association analysis across diverse populations.

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 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 analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

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

This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.

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 analyzes exome array data from 9,721 ischemic stroke cases to identify coding variants associated with stroke, finding 15 significant variants, including 13 novel associations.

This paper introduces an unsupervised deep learning method to derive brain imaging phenotypes from MRI data, identifying new genetic loci associated with these endophenotypes.

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.