Ruth C. Lovering

RNAcentral integrates literature and gene-level data to enhance non-coding RNA sequence analysis and functional understanding.

The paper curates miRNA regulation of PPARG pathway proteins in PASMCs and expands GO annotations for PPARG signaling in PAH.

The paper constructs tissue-specific LRRK2 interactomes and identifies a functional cluster within the striatum, highlighting distinct expression patterns and interactions in brain regions.

The paper curates a comprehensive catalogue of human DNA-binding transcription factors using Gene Ontology definitions and provides access to it via an online resource.

The paper describes a crowdsourcing initiative, CACAO, where undergraduates contribute gene function annotations to the Gene Ontology, enhancing coverage and enabling community-driven curation.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper introduces a Gene Ontology annotation quality control system that identifies and corrects errors in gene product co-annotation by analyzing mutual exclusivity patterns across biological processes.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

PINOT is a web tool that integrates and curates protein-protein interaction data from multiple sources to construct PPI networks for human and C. elegans.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

The paper introduces CausalTAB, an updated format for representing causal signaling interactions, enhancing the precision and coverage of signaling network modeling.

The paper presents a dataset of 28,000 annotations describing how amino acid mutations affect protein interactions, available through the IntAct website.