Braxton D. Mitchell

The paper compares two phenotyping approaches for ischemic stroke subtypes and identifies a genetic risk locus for small vessel stroke using the intersect phenotype.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

The paper decomposes mutation rate and spectra variation in human germline using blind source separation, identifying nine processes including those related to DNA damage and replication timing.

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 genetic variants affecting HbA1c levels in multi-ancestry cohorts, showing ancestry-specific impacts on diabetes diagnosis via HbA1c.

This study identifies two genetic loci, GDF5 and COL27A1, associated with knee pain through a genome-wide association analysis in the UK Biobank and replication in other cohorts.

The paper identifies a missense variant in B4GALT1 associated with lower LDL-C and fibrinogen, supported by genetic, functional, and glycan profiling evidence.

The paper identifies subtype-specific genetic loci associated with stroke subtypes and finds heterogeneity in their effects across different stroke types.

The paper introduces SMMAT, a variant-set mixed model association test for continuous and binary traits in large-scale WGS studies, showing it controls type I error rates and applies to population structured and related samples.

The paper presents an automated pipeline for quantifying white matter hyperintensity in acute ischemic stroke cohorts, showing improved accuracy and enabling large-scale analysis.

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

This paper conducts a genome-wide meta-analysis of chronic back pain in 158,025 individuals, identifying three genetic loci associated with the condition.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

The paper evaluates 15 candidate SNPs associated with psychiatric disorders using 6,165 diffusion MRI scans, finding no significant associations after correction for multiple testing.