Kitty B. Murphy

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases

The paper systematically identifies cell type-specific mechanisms for 86.7% of rare disease phenotypes using transcriptomic data and the Human Phenotype Ontology, with results accessible via an interactive web portal.

Genetic modulation of immune gene co-expression in the aged mouse hippocampus by the Apbb1ip locus

This study identifies Apbb1ip as a genetic modulator of immune gene co-expression in aged mouse hippocampus, revealing age-related transcriptomic changes and immune response upregulation.

CHAS, a deconvolution tool, infers cell type-specific signatures in bulk brain histone acetylation studies of neurological and psychiatric disorders

CHAS deconvolves bulk H3K27ac profiles to infer cell type-specific signatures in neurological and psychiatric disorders, revealing distinct genetic and epigenetic contributions across cell types.

The APOE isoforms differentially shape the transcriptomic and epigenomic landscapes of human microglia in a xenotransplantation model of Alzheimer's disease

This study examines how APOE isoforms affect the transcriptomic and epigenomic features of human microglia in an Alzheimer's disease xenotransplantation model, identifying genotype-dependent differences.

Harnessing generative AI to annotate the severity of all phenotypic abnormalities within the Human Phenotype Ontology

This paper uses GPT-4 to automatically annotate the severity of phenotypic abnormalities in the Human Phenotype Ontology, achieving high accuracy in clinical characteristic identification.