A5048476107- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Retinal Development and Disorders
- Glaucoma and retinal disorders
- Neurobiology and Insect Physiology Research
- Retinal Diseases and Treatments
- Cancer Genomics and Diagnostics
- Insect Utilization and Effects
- Clusterin in disease pathology
- Virus-based gene therapy research
- Genomics and Phylogenetic Studies
- Immune Cell Function and Interaction
- Ocular Diseases and Behçet’s Syndrome
- Insect and Pesticide Research
- Retinal Imaging and Analysis
- Lung Cancer Diagnosis and Treatment
- Flavonoids in Medical Research
- RNA regulation and disease
- Environmental DNA in Biodiversity Studies
- Physiological and biochemical adaptations
- Cell Image Analysis Techniques
- Cytomegalovirus and herpesvirus research
- Pluripotent Stem Cells Research
- T-cell and B-cell Immunology
- Mosquito-borne diseases and control
University of Tasmania
2018-2024
Menzies School of Health Research
2023-2024
Menzies Institute for Medical Research
2024
Royal Darwin Hospital
2023
Royal Hobart Hospital
2022
Springhouse
1989
ROHM
1984
University of California, Riverside
1979
The human immune system displays substantial variation between individuals, leading to differences in susceptibility autoimmune disease. We present single-cell RNA sequencing (scRNA-seq) data from 1,267,758 peripheral blood mononuclear cells 982 healthy subjects. For 14 cell types, we identified 26,597 independent cis-expression quantitative trait loci (eQTLs) and 990 trans-eQTLs, with most showing type-specific effects on gene expression. subsequently show how eQTLs have dynamic allelic B...
Abstract The libraries generated by high-throughput single cell RNA-sequencing (scRNA-seq) platforms such as the Chromium from 10× Genomics require considerable amounts of sequencing, typically due to large number cells. ability use these data address biological questions is directly impacted quality sequence data. Here we have compared performance Illumina NextSeq 500 and NovaSeq 6000 against BGI MGISEQ-2000 platform using identical Single Cell 3′ consisting over 70 000 cells on platform....
Genome-wide association studies have recently uncovered many loci associated with variation in intraocular pressure (IOP). Artificial intelligence (AI) can be used to interrogate the effect of specific genetic knockouts on morphology trabecular meshwork cells (TMCs) and thus, IOP regulation.
Understanding the genetic basis of gene expression can shed light on regulatory mechanisms underlying complex traits and diseases. Single-cell resolved measures RNA levels single-cell quantitative trait loci (sc-eQTLs) have revealed regulation that drives sub-tissue cell states types across diverse human tissues. Here, we describe first phase TenK10K, largest-to-date dataset matched whole-genome sequencing (WGS) RNA-sequencing (scRNA-seq). We leverage scRNA-seq data from over 5 million cells...
Abstract Introduction Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterized by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) have uncovered many genetic variants associated with elevated intraocular pressure (IOP), one key risk factors for POAG. We aimed to identify and morphological variation that can be attributed trabecular meshwork (TMC) dysfunction raised IOP in...
CRISPR/Cas has opened the prospect of direct gene correction therapy for some inherited retinal diseases. Previous work demonstrated utility adeno-associated virus (AAV) mediated delivery to cells in vivo; however, with expanding repertoire endonucleases, it is not clear which these are most efficacious editing vivo. We sought compare endonuclease activity using both single and dual AAV strategies cells. Plasmids a vector system SpCas9, SaCas9, Cas12a, CjCas9 sgRNA targeting YFP, as well...
Safe delivery of CRISPR/Cas endonucleases remains one the major barriers to widespread application
Violent conflict left Timor-Leste with a dismantled health-care workforce and infrastructure after 2001. The absence of existing health tertiary education sectors compounded the challenges instituting national eye-care system.From 2001, East Timor Eye Program coordinated donations initially provided eye care through visiting teams. From 2005, programme reoriented to undertake concerted development. In 2008 full-time surgical services started in purpose-built facility capital city. 2014 we...
Abstract The libraries generated by high-throughput single cell RNA-sequencing platforms such as the Chromium from 10X Genomics require considerable amounts of sequencing, typically due to large number cells. ability use this data address biological questions is directly impacted quality sequence data. Here we have compared performance Illumina NextSeq 500 and NovaSeq 6000 against BGI MGISEQ-2000 platform using identical Single Cell 3’ consisting over 70,000 Our results demonstrate a highly...
Abstract Aim Indigenous Australians with lung cancer have poorer survival than non‐Indigenous Australians. The reasons for the disparity are not fully understood and this study hypothesized that there may be a difference in molecular profiles of tumors. aim study, therefore, was to describe compare characteristics non‐small cell (NSCLC) Northern Territory's Top End, between patients, profile tumors two groups. Methods A retrospective review conducted all adults new diagnosis NSCLC End from...
Abstract Tandem repeats (TRs) – highly polymorphic, repetitive sequences dispersed across the human genome are crucial regulators of gene expression and diverse biological processes. Yet, due to historical challenges in their accurate calling analysis, TRs have remained underexplored compared single nucleotide variants (SNVs). Here, we introduce a cell type-specific resource exploring impact TR variation on expression. Leveraging whole single-cell RNA sequencing, catalog over 1.7 million...
ABSTRACT PURPOSE The exact pathogenesis of primary open-angle glaucoma (POAG) is poorly understood. Genome-wide association studies (GWAS) have recently uncovered many loci associated with variation in intraocular pressure (IOP); a crucial risk factor for POAG. Artificial intelligence (AI) can be used to interrogate the effect specific genetic knockouts on morphology trabecular meshwork cells (TMCs), regulatory IOP. METHODS Sixty-two genes at fifty-five IOP were knocked out TMC lines. All...
The libraries generated by high-throughput single cell RNA-sequencing (scRNA-seq) platforms such as the Chromium from 10× Genomics require considerable amounts of sequencing, typically due to large number cells. ability use these data address biological questions is directly impacted quality sequence data. Here we have compared performance Illumina NextSeq 500 and NovaSeq 6000 against BGI MGISEQ-2000 platform using identical Single Cell 3' consisting over 70 000 cells on platform. Our...
ABSTRACT CRISPR/Cas has opened the prospect of direct gene correction therapy for some inherited retinal diseases. Previous work demonstrated utility adeno-associated virus (AAV) mediated delivery to cells in vivo ; however, with expanding repertoire endonucleases, it is not clear which these are most efficacious editing . We sought compare endonuclease activity using both single and dual AAV strategies cells. Plasmids a vector system SpCas9, SaCas9, Cas12a, CjCas9 sgRNA targeting YFP...
ABSTRACT INTRODUCTION Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterised by progressive retinal ganglion cell degeneration, the precise pathogenesis remains unknown. Genome-wide association studies (GWAS) have uncovered many genetic variants associated with elevated intraocular pressure (IOP), one key risk factors for POAG. This study sought to investigate morphological and transcriptional consequences perturbation genes at IOP loci in trabecular...