A5063368031- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Evolution and Genetic Dynamics
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Pancreatic and Hepatic Oncology Research
- Cancer-related molecular mechanisms research
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Lung Cancer Treatments and Mutations
- Nutrition, Genetics, and Disease
- Genetics, Bioinformatics, and Biomedical Research
- RNA Research and Splicing
- X-ray Diffraction in Crystallography
- Crystallization and Solubility Studies
- Radiomics and Machine Learning in Medical Imaging
- DNA Repair Mechanisms
- Cancer, Hypoxia, and Metabolism
- Corrosion Behavior and Inhibition
- Mitochondrial Function and Pathology
The University of Queensland
2008-2024
QIMR Berghofer Medical Research Institute
2011-2024
Queensland Government
2022-2024
Queensland Health
2023
Arthur D. Little (United States)
1961-1965
Abstract Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield rare disease. Automation holds the promise of delivering benefits reanalysis at scale. Our study aimed to understand current practices among Australian clinical and laboratory genetics services explore attitudes towards large-scale automated re-analysis. We collected audit regarding testing volumes, policies procedures from all laboratories providing disease testing. A genetic health...
Invasive lobular carcinoma (ILC) is the most common special type of breast cancer, and characterized by functional loss E-cadherin, resulting in cellular adhesion defects. ILC typically present as estrogen receptor positive, grade 2 cancers, with a good short-term prognosis. Several large-scale molecular profiling studies have now dissected unique genomics ILC. We undertaken an integrative analysis gene expression DNA copy number to identify novel drivers prognostic biomarkers, using...
Circulating cell-free DNA (cfDNA) in the plasma of cancer patients contains tumour (ctDNA) derived from cells and it has been widely recognized as a non-invasive source for diagnosis prognosis cancer. Molecular profiling ctDNA is often performed using targeted sequencing or low-coverage whole genome (WGS) to identify specific somatic mutations copy number aberrations (sCNAs). However, these approaches cannot efficiently detect all tumour-derived genomic changes ctDNA.We WGS analysis cfDNA 4...
Re-analyzing genomic information from patients without a molecular diagnosis is known to improve diagnostic yields. There are different mechanisms responsible for this increase, but the discovery of new, and refinement existing, gene-disease relationships one most prominent drivers new diagnoses. This study examines incorporation knowledge into virtual gene panels how affects potential re-analysis.
Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems facilitating this shift. By providing clinicians with detailed information for each patient analytic support decision-making the point of care, technologies enabling new era medicine. Genomic data also provide that can improve accuracy timeliness diagnosis, optimize prescribing, target risk reduction strategies, all which key elements However, genomic predominantly...
Abstract The methods described in Part I 1 were applied to the screening of over 400 possible inhibitors, mainly organic, non‐acid aqueous solutions containing dissolved air, and supporting polarisation experiments. Inorganic anions tested included sodium azide which inhibits rusting although it forms a soluble complex with ferric ions does not precipitate ferrous ions. Some heavy metal complexes, such as potassium ferrocyanide EDTA complex, inhibitors. carboxylate anion favoured inhibition...
Abstract An assessment of inhibition ability was obtained by two test procedures, which yielded the minimum threshold concentration (range) at an additive prevents corrosion ferrous materials in non‐acid aqueous solutions containing dissolved air. accelerated procedure also adopted, basis solution contained a mixture potassium ferricyanide and sodium chloride. The to inhibit zinc assessed weight loss experiments. Stationary current/potential polarisation curves, as well current/time...
Obtaining single parasite clones is required for many techniques in malaria research. Cloning by limiting dilution using microscopy-based assessment growth an arduous and labor-intensive process. An alternative method the detection of assays a commercial ELISA histidine-rich protein II (HRP2) kit. Detection was undertaken HRP2 compared to thick film microscopy. standard used determine threshold assay, release model extrapolate amount positive result. The more sensitive than microscopy...
Accurate identification of copy number alterations is an essential step in understanding the events driving tumor progression. While a variety algorithms have been developed to use high-throughput sequencing data profile changes, no tool able reliably characterize ploidy and genotype absolute from samples that contain less than 40% cells. To increase our power resolve low-cellularity samples, we novel approach pre-phases heterozygote germline single nucleotide polymorphisms (SNPs) order...
Abstract Despite the significant advances in understanding genetic architecture of epilepsy, many patients do not receive a molecular diagnosis after genomic testing. Re-analysing existing data has emerged as potent method to increase diagnostic yields—providing benefits genomic-enabled medicine more individuals afflicted with range different conditions. The primary drivers for these new diagnoses are discovery novel gene-disease and variants-disease relationships; however, most decisions...
Abstract Accurate identification of copy number alterations is an essential step in understanding the events driving tumor progression. While a variety algorithms have been developed to use high-throughput sequencing data profile changes, no tool able reliably characterize ploidy and genotype absolute from samples which contain less than 40% cells. To increase our power resolve low-cellularity samples, we novel approach pre-phases heterozygote germline SNPs order replace commonly used...
<sec> <title>UNSTRUCTURED</title> Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems facilitating this shift. By providing clinicians with detailed information for each patient analytic support decision-making the point of care, technologies enabling new era medicine. Genomic data also provide that can improve accuracy timeliness diagnosis, optimize prescribing, target risk reduction strategies, all which key...
Abstract Background The accurate detection of copy number alterations from the analysis circulating cell free tumour DNA (ctDNA) in blood is essential to realising potential liquid biopsies. However, currently available approaches require a large plasma samples healthy individuals, sequenced using same platform and protocols act as reference panel. Obtaining this panel can be challenging, prohibitively expensive limits ability migrate improved sequencing platforms protocols. Methods We...
Searchable abstracts of presentations at key conferences in oncology ISSN 2631-4657 (online)