A5069503356- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- Circular RNAs in diseases
- Pancreatitis Pathology and Treatment
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
- Tuberculosis Research and Epidemiology
- Cancer Genomics and Diagnostics
- Immunodeficiency and Autoimmune Disorders
Newcastle University
2023-2024
Wellcome Centre for Mitochondrial Research
2024
Australian National University
2012
Summary Accurate identification of sparse heterozygous single-nucleotide variants (SNVs) is a critical challenge for identifying the causative mutations in mouse genetic screens, human diseases and cancer. When seeking to identify causal DNA that occur at such low rates, they are overwhelmed by false-positive calls arise from range technical biological sources. We describe strategy using whole-exome capture, massively parallel sequencing computational analysis, which identifies with rate...
<title>Abstract</title> Neurodegeneration in Parkinson’s disease (PD) precedes diagnosis by years. Early neurodegeneration may be reflected RNA levels and measurable as a biomarker. Here, we present the largest quantification of whole blood linear circular RNAs (circRNA) early-stage PD, using sequencing data from two cohorts (PPMI = 259 161 Controls; ICICLE-PD 48 Controls). We identified replicable increase in<italic>TMEM252</italic>and<italic>LMNB1</italic>gene expression PD. novel...