Mark J. Cowley

This study uses single-cell RNA-sequencing of cerebrospinal fluid to identify circulating tumour cells in children with brain cancer, revealing their dynamics and potential as biomarkers.

This paper develops patient-derived tumour models using engineered ECM hydrogels to enable precision medicine for paediatric cancers by retaining tumour genotype and phenotype.

This paper shows RNA-seq can detect most mutations found by WGS in pediatric tumors and provides additional insights into their pathogenicity.

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

CRUX is a platform for analyzing cancer genome data, enabling cohort comparisons, biomarker discovery, and visualization with a user-friendly interface and local analysis options.

mity detects low heteroplasmy mitochondrial variants in whole genome sequencing data, improving diagnostic rates for mitochondrial diseases.

The paper presents a streamlined system for integrating 3D protein structures into variant analysis, enabling easy variant specification and access to structural insights.

ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.

Seave is a web platform for storing and querying human genomic variation, enabling variant filtering, annotation, and analysis across different data types and scales.