Peter J. Castaldi

Newly identified COPD GWAS protein interactors reveal a potential disease network module

Background Chronic obstructive pulmonary disease (COPD) is a complex, heterogeneous disease influenced by genetic and environmental factors. However, the interactions between COPD risk genes and their collective role in COPD susceptibility remain largely elusive. We hypothesize that the protein-protein interaction (PPI...

A framework for designing splice-junction experiments in deep 3’ single-cell RNA sequencing

Large-scale structural analysis of pre-mRNA structure using RADIS

This work has developed RADIS (Reactivity Analysis of Deep and Intergenic RNA Structure), a strategy that yields strand-resolved chemical probing reactivity profiles across entire intron-rich loci by creating tiled arrays of RNAs that comprehensively span long genomic distances.

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.