Braxton D. Mitchell

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

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

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

The paper performs a GWAS in a case-only design to identify genetic loci influencing age at onset of ischemic stroke and finds a robust association with the APOE locus, suggesting potential survival bias rather than direct causation.

This study shows that a polygenic risk score for coronary artery disease is associated with more severe atherosclerosis features in autopsy samples of sudden death cases.

The paper examines how APOE4 modifies the effect of plasma LDL on white matter integrity in older adults, finding a significant moderation effect.

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

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.

The paper evaluates whether a genomic risk score modifies the risk of ischemic stroke associated with oral contraceptive use in premenopausal women.

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

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 conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

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 examines the association between pathogenic or likely pathogenic genetic variants in cardiomyopathy and arrhythmia genes and unexplained sudden cardiac death in adults with no gross pathological findings.

OASIS enables real-time biological discovery from GWAS data by providing a web-based system with analysis tools and visualizations for Old Order Amish studies.

The paper describes a system for harmonizing phenotype data across multiple studies in the TOPMed program, enabling reproducible and shared phenotype data for over 80 studies.

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 introduces a method to detect short IBD segments using rare variant sharing, improving the identification of distant relatedness and older population divergence.