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Advanced Genome and Transcriptome Analytics

Personalised medicine hinges on the utilisation of data. It revolves around the generation, comparison, and evaluation of data encompassing a patient’s distinctive genetic makeup, environmental interactions, lifestyle choices, and symptoms.

The Advanced Genome and Transcriptome Analytics Enabling project pioneers new genetic research methods and assesses their impact on diagnosis and treatment recommendations for cancer, rare diseases, and neurodevelopmental disorders. It is interconnected with the other Luminesce Alliance Data Enabling Platform projects below to create a comprehensive research data ecosystem for NSW, driving forward precision medicine initiatives.

  1. Advanced Clinical Data Analytics project: Accessing, extracting, and interpreting clinical electronic medical records and administrative data, currently locked within hospital records to expedite diagnoses, improve treatment recommendations, enhance clinical management of patients
  2. Kids Link Data Enabling project: Harnessing data linkage by sourcing clinical, genomic, and administrative health, treatment, and observational datasets to identify determinants of disease, assess effective treatment and pathways of health care and associated health outcomes, and identify the most effective clinical interventions and therapies.
  • Precision medicine revolutionises patient care by incorporating unique genetic profiles, environmental factors, and lifestyle considerations. Advanced molecular techniques like whole genome sequencing, RNA sequencing, proteomics, and epigenome profiling drive this transformation, yet translating data into clinical impact remains challenging.

    Luminesce Alliance tackles this by uniting experts in clinical genetics, computational biology, data linkage, coding, and ethics. Leveraging clinical data and advanced technology and infrastructures, they expedite precision medicine adoption in NSW, addressing disease causes, enhancing research, improving risk assessment, fostering innovation, strengthening the health system, and providing psychosocial support.

    This aligns with government priorities for digital health and data research ecosystem development in NSW, aiming to improve outcomes for Australians.

  • In modern healthcare, data is fundamental, especially in the realm of precision medicine where datasets are vast and intricate. To navigate this complexity, a unified data platform employing bioinformatics, AI, and cloud computing alongside best practices and data sharing is essential for progress. The Advanced Genome and Transcriptome Analytics Enabling Platform will address this by delivering:

    • A program of advanced genome analytics research, which will develop innovative approaches to analyse and interpret patient’s whole genome sequencing (WGS) data, with application for rare disease and cancer diagnosis.
    • Methods to analyse longitudinal genomic data from solid, and liquid biopsies from children with cancer, providing real-time molecular monitoring data to support optimal clinical management.
    • Methods to identify mosaic genetic variants through analysis of deep targeted sequencing data in blood, or other tissues, with application for rare disease and cancer diagnosis, finding a diagnosis in >10% of patients that are undiagnosed using conventional approaches.
    • Methods to identify structural variants from RNA-seq data (beyond fusions) and establish an RNA-seq-only diagnostic approach, with application to cancer and rare disease
  • Lead Investigator

    • Associate Professor Mark Cowley, Deputy Director, Enabling Platforms and Collaboration, Children’s Cancer Institute and the Project Lead for Advanced Genome and Transcriptome Analytics

    Research Team

    • Marie Wong-Erasmus
    • Piyush Mundra
    • Wenhan Chen
    • Mustafa Sayed
    • James Bradley
    • Chelsea Mayoh
    • Patricia Sullivan
    • Julian Quinn
    • Kamile Taouk
    • Lucas Zhou
    • Dimitri Tsardakas
    • Gawnesh Paatni
    • Children’s Cancer Institute
    • Sydney Children’s Hospitals Network
    • The University of Sydney