Edwin K. Silverman

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper identifies protein interactors of COPD GWAS genes using AP-MS and network analysis, revealing a disease network module involving 8 proteins.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

This study identifies 44 genetic loci associated with pulmonary artery diameter across COPD and population-based cohorts, highlighting shared causal variation between pulmonary and systemic vascular biology.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

The paper investigates HHIP's role in epithelial wound healing and links its dysfunction to COPD susceptibility through computational modeling and experimental validation.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper analyzes circulating metabolites using genome-wide association data from the TOPMed program, identifying 1,778 loci and highlighting sex-specific genetic contributions.

This study identifies 38 COPD GWAS loci with evidence of sQTLs, showing that sQTL analysis in whole blood and lung tissue provides novel insights into COPD mechanisms.

The paper identifies HHIP protein interactions in lung cells, revealing new connections to COPD GWAS genes and providing insights into COPD pathogenesis.

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

The paper analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

This study identifies genetic variants associated with sputum mucin concentrations and links one variant to COPD phenotypes like chronic bronchitis and acute exacerbations.

This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.

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

The paper finds that somatic mutations in diseased lung tissue correlate with reduced lung function and cell type proportions in COPD and IPF.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

RITSS identifies gene-environment interactions in quantitative traits using sample splitting and robust statistics, finding significant interactions in lung function and height data.

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.

This paper introduces a statistical physics approach using the random-field Ising model to detect disease modules, showing improved efficiency and robustness compared to existing methods.

This paper introduces fast algorithms for computing principal components of genomic similarity matrices, including exact methods for specific matrices and an approximate Jaccard matrix with theoretical guarantees.

The paper introduces MuXTalk, a network-based method to detect signaling crosstalk by integrating signaling and regulatory interactions, expanding crosstalk databases and improving prediction performance.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

SciViewer is an interactive tool for visualizing and analyzing single-cell datasets, offering target-centric views and integration with pharmacogenomics databases.

This study investigates whether smoking modifies the effect of a polygenic risk score on reduced lung function, finding significant gene-by-smoking interactions in FEV1/FVC.

This paper introduces a gene-based testing framework that improves power and reduces false positives by integrating chromatin interactions and knockoff genotypes, showing better performance in GWAS and whole-genome sequencing data.

This paper introduces a method to combine genotypes from genotyping arrays and whole genome sequencing to expand public controls for GWAS, improving power for non-European ancestries.

The paper evaluates 24 network-based methods for predicting protein-protein interactions across five interactomes, identifies top-performing methods, and validates their predictions experimentally.