A5000643023- Genetics and Neurodevelopmental Disorders
- Single-cell and spatial transcriptomics
- Chromatin Remodeling and Cancer
- Machine Learning in Bioinformatics
- RNA modifications and cancer
- Evolutionary Algorithms and Applications
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Cardiac tumors and thrombi
- Algorithms and Data Compression
- Autism Spectrum Disorder Research
- Natural Language Processing Techniques
- Microfluidic and Capillary Electrophoresis Applications
- Musculoskeletal pain and rehabilitation
- Epigenetics and DNA Methylation
- Global Health Workforce Issues
- Cultural Competency in Health Care
- Race, Genetics, and Society
- Bacteriophages and microbial interactions
- Ophthalmology and Eye Disorders
- Scoliosis diagnosis and treatment
- Semantic Web and Ontologies
- Peptidase Inhibition and Analysis
- Genomics and Phylogenetic Studies
- RNA regulation and disease
Pacific Biosciences (United States)
2012-2020
Meredith College
2017
Griffith University
2017
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read (LRS) complementary strengths, we aimed determine whether LRS could offer a means identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome variants patient who presented with multiple neoplasia cardiac myxomata, whom the results of targeted testing were...
The human fragile X mental retardation 1 ( FMR1 ) gene contains a (CGG) n trinucleotide repeat in its 5′ untranslated region (5′UTR). Expansions of this result number clinical disorders with distinct molecular pathologies, including syndrome (FXS; full mutation range, greater than 200 CGG repeats) and X–associated tremor/ataxia (FXTAS; premutation 55–200 repeats). Study these diseases has been limited by an inability to sequence expanded repeats, particularly the existing DNA sequencing...
Abstract Background The PacBio RS II provides for single molecule, real-time DNA technology to sequence genomes and detect modifications. starting point high-quality production is high molecular weight genomic DNA. To automate the library preparation process, there must be high-throughput methods in place assess DNA, ensure size amounts of sheared fragments final library. Findings construction automation was accomplished using Agilent NGS workstation with Bravo accessories heating, shaking,...
Abstract Current clinical genomics assays primarily utilize short-read sequencing (SRS), which offers high throughput, base accuracy, and low cost per base. SRS has, however, limited ability to evaluate tandem repeats, regions with [GC] or [AT] content, highly polymorphic regions, paralogous large-scale structural variants. Long-read (LRS) has complementary strengths a means discover overlooked genetic variation in patients undiagnosed by SRS. To LRS, we selected patient who presented...