Robert W. Corty

This study links clonal hematopoiesis to accelerated frailty and functional decline across multiple organ systems in humans.

The paper identifies mutation-specific impairments in TET2 and DNMT3A enzymatic activity as predictors of clonal hematopoiesis disease risk using methylation-based activity scores.

The paper shows genome or exome sequencing underestimates CHIP-disease associations due to low sensitivity and positive predictive value, requiring deep sequencing for accurate results.

This study sequenced 35,024 individuals with predominantly African ancestry to address gaps in genomics and healthcare, finding under-documented disease variants and novel associations with drug adverse events and glycemic control.

This study finds that clonal hematopoiesis (CHIP) increases stroke risk across multiple cohorts, with specific gene mutations and inflammatory markers like IL-1RAP modifying this risk.

The paper identifies genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals, linking specific aut-mCAs to disease risk and therapeutic targets.

The paper develops a clinical algorithm to identify individuals with G6PD p.Val68Met variant at risk for diabetes undertreatment using routine lab measurements.

The paper analyzes sequencing data from three cohorts to quantify cytopenia incidence and identify risk factors in clonal hematopoiesis, finding higher cytopenia rates and progression to myeloid neoplasms.

The paper identifies gene-gene interactions affecting blood traits and disease risk using variance QTL approaches in large human cohorts.

vqtl is an R package for mean-variance QTL mapping that corrects for variance heterogeneity and integrates with existing tools for genetic analysis.

This paper introduces mean-variance QTL mapping to identify novel QTL for circadian activity and exploratory behavior in mice, showing its superiority over traditional interval mapping in detecting both mean- and variance-controlling QTL.

This paper develops a method to detect mean-variance QTLs while accounting for background variance heterogeneity, identifying a new mean QTL for bodyweight in mice.