Lisa J. Strug

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

PangyPlot is a genome browser that simplifies exploration of pangenome graphs, enabling visualization of genetic variation in populations with diverse haplotypes.

This paper introduces RoP, a method to analyze phase effects in genetic association studies using long-read sequencing data, showing improved detection of cis and trans effects in cystic fibrosis loci.

This paper introduces a new statistical method, qJLS, to detect genetic associations in complex traits by accounting for unknown gene-gene or gene-environment interactions, and applies it to identify a novel variant in cystic fibrosis lung disease.

The paper introduces DPM, a directional integration method for multi-omics data that identifies consistent gene and pathway changes across datasets and highlights inconsistent evidence.

The paper identifies cell types and modifier genes co-expressed with CFTR in lung tissue using single-cell RNA sequencing to inform therapeutic target prioritization.

The paper proposes a joint statistical test that integrates association evidence with Hardy-Weinberg disequilibrium differences between case and control groups to improve detection of disease susceptibility loci.

RoPE improves differential gene expression analysis by using a data-driven adjustment and robust profile likelihood ratio test, showing better performance with larger sample sizes and reliable error control.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

The paper introduces a new colocalization method, SS2, to identify the gene responsible for a CF lung disease locus, finding significant colocalization with MUC4.

The paper improves genotype imputation for CF patients using the TOPMed reference panel and a CF-specific imputation panel, enhancing marker coverage and PRS accuracy.

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

The paper identifies cis-interacting lncRNAs and their targets using RNA-chromatin and Hi-C data across 18 human cell types.

This paper assesses the statistical power of case-control genomic studies for identifying host genetic factors associated with COVID-19 susceptibility and severity using simulations and current epidemiological estimates.

LocusFocus is a web tool that tests colocalization between GWAS and eQTL data to identify relevant genes and tissues for GWAS loci.

VIKNGS integrates NGS data for genetic association analysis, providing tools to adjust for differential genotype uncertainty and improve statistical power.