Scott Mastromatteo

Beyond statistical significance: ranking transcription factor binding motifs by effect size

The paper introduces effect size-based methods to rank transcription factor binding motifs, showing they outperform p-value rankings under heterogeneous sample sizes.

GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations

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

Beyond reference bias: Making pangenomes accessible with PangyPlot

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

High Quality Phasing Using Linked-Read Whole Genome Sequencing of Patient Cohorts Informs Genetic Understanding of Complex Traits

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.

A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression

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

LocusFocus: A web-based colocalization tool for the annotation and functional follow-up of GWAS

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

VIKNGS: A C++ VARIANT INTEGRATION KIT FOR NEXTGENERATION SEQUENCING ASSOCIATION ANALYSIS

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