Paul A. Scheet

This study identifies novel genetic risk loci for pancreatic ductal adenocarcinoma in African ancestry individuals through admixture mapping and GWAS.

This paper shows how data processing steps in GWAS affect reproducibility and stability of set-based analyses, and provides tools to address these issues.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

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

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

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

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 investigates how anti-cancer immunity evolves from preneoplasia to invasive lung adenocarcinomas, identifying changes in immune response and molecular features that may facilitate immune evasion.

This study examines DNA methylation changes and intra-tumor heterogeneity in lung adenocarcinoma progression, finding increased methylation aberrations and immunosuppression in later-stage lesions.

The paper analyzes allelic imbalance across 33 tumor types using haplotype-based methods on TCGA data, finding high prevalence of AI and recurrent chromosomal aberrations.

The paper analyzes single-cell RNA-seq data to identify ACE2 expression patterns in human lung epithelial cells, finding high ACE2 expression in alveolar type II cells and co-expression with pathogen receptors.