Andrew D. Johnson

This study identifies a sex-specific genetic variant affecting platelet aggregation in response to low-dose epinephrine across multiple cohorts.

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 identifies genetic loci and proteins associated with venous thromboembolism recurrence risk using GWAS and subgroup analyses across different thrombotic subtypes.

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

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

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

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

This study conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.

The paper analyzes 65 GWAS from the GRASP portal to identify genetic modifiers of SARS-CoV-2 infection and severity, finding new loci and tracking significance over time.

The paper introduces BinomiRare, a test for rare variant association with binary outcomes in mixed models, showing it controls type 1 error in simulations and applies it to study genetic variants in disease traits.

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.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

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.

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

The paper identifies four proteins causally linked to platelet traits using genomic, epidemiological, and experimental data.

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

This paper evaluates the causal effect of fibrinogen on coronary heart disease using Mendelian randomization, finding a small effect with multi-variant methods but not with single variant approaches.

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.