Josyf C. Mychaleckyj

The paper shows that higher African ancestry in Brazilian infants is linked to increased fecal myeloperoxidase levels, suggesting genetic factors influence immune response to enteric infections.

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

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

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

The paper introduces the T1D Knowledge Portal, a resource for querying genetic and functional data related to type 1 diabetes to aid in hypothesis generation and target discovery.

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.

This study analyzes the genetic structure of Gullah African Americans, finding higher African ancestry and lower European admixture compared to non-Gullah African Americans.

This paper conducts a GWAS to identify genetic variants associated with symptomatic cryptosporidiosis in infants, finding a strong association with an intronic SNP in PRKCA.

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.

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

This study identifies genetic variants associated with Entamoeba histolytica infection and links them to inflammatory bowel disease susceptibility.