Robert J. Klein

This study characterizes clonal hematopoiesis across adulthood and genetic ancestry in a large cohort, finding age-related increases in prevalence, ancestry-specific differences, and associations with immune markers and disease outcomes.

This study identifies inherited genetic risk factors in young-onset lung cancer, finding higher burdens of rare pathogenic variants in DDR and cilia-related genes and elevated polygenic risk scores.

This study performs a cell-type-aware transcriptome-wide association study (TWAS) of mammographic density phenotypes, identifying novel genes and prioritizing known GWAS loci through cell-type-specific gene expression analysis.

This study examines the association between vitamin D-related gene variants and prostate cancer risk in Black men, finding no significant associations after adjustment but some suggestive results.

This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

MiXcan performs cell-type-specific transcriptome-wide association studies, identifying more breast cancer susceptibility genes than conventional methods by considering cell-type heterogeneity.

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

The paper validates prostate cancer risk SNPs using CRISPR/Cas9 to show they alter MSMB expression, highlighting the importance of functional studies in GWAS findings.

The paper identifies inherited rare, deleterious ATM variants as risk factors for lung adenocarcinoma, showing increased odds ratios in case-control studies and population cohorts.

The paper develops a custom ENCODE annotation for cancer genomics, highlighting TF-RBP interactions and network rewiring during oncogenesis, and validates findings using experimental assays.

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.

The paper identifies rare pathogenic germline variants in Fanconi Anemia genes as risk factors for squamous lung cancer, with BRCA2 showing significant enrichment.

The paper sequenced a population-specific reference panel at high depth to improve imputation accuracy and variant filtering in the Ashkenazi Jewish population.

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.