Genotyping & Phenotyping
Using next-generation screening and sequencing technology, with integrated bioinformatics capabilities, Phenomics Australia enables researchers to identify new genomic variants and understand how they contribute to disease.
A genotype is an organism’s complete set of heritable genes, or genes that can be passed down from parents to offspring. These genes help encode the characteristics that are physically expressed (phenotype) in an organism, such as hair colour, height, etc. Genotyping is the term used to describe the process of determining an organism’s genotype, which can include potential disease-causing variations.
Phenotype is the term used in genetics for the composite observable characteristics or traits of an organism. The term covers the organism’s morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behaviour, and the products of behaviour. An organism’s phenotype results from two basic factors: the expression of an organism’s genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. Phenotyping is the term used to describe the process of identifying an organism’s phenotype, and with respect to health discovery, characterising disease phenotypes and the action of potential therapies.
Phenomics Australia genomic and bioinformatics specialists provide a comprehensive range of services, and tools not otherwise available in standard sequencing services, including:
- Optimized project design, DNA extraction, library preparation, enrichment and sequencing.
- Automated, high throughput systems with end-to-end sample tracking and rigorous quality control enabling a rapid turnaround time of 6-8 weeks.
- Highly refined variant detection and annotation platforms. We can customize our service to meet your specific research requirements. We have tailored a package for clinician-led research groups to analyse a tumour and matched normal pairs for cancer studies and family trios for rare disease variant discovery.
- A post-sequencing service framework to perform large-scale reproducible analyses that run in a high-performance computer cluster with fast, robust data storage.
- Data provided in detailed reports to assist in the translation. The information can also be provided as raw data on request.
Both whole genome (WGS) and whole exome (WES) sequencing is available for genetically modified mouse strains and human samples.
Our technical staff have years of experience undertaking phenotype-driven screens to characterise in particular mouse models of human disease. As part of the phenotyping pipeline, large cohorts of mutagenised mouse strains have been progressed through an optimised screen targeting biochemical, immunological and haematological pathways in the mouse. Where listed our protocols follow the international mouse phenotyping consortium IMPReSS guidelines.
Our bioinformaticians have built sophisticated bioinformatic pipelines to detect genomic variants including single nucleotide polymorphisms (SNP).
Tailored pipelines can be developed for specific projects. As an example, we have tailored a package for clinician-led research groups to analyse tumour and matched normal pairs for cancer studies and family trios for rare disease variant discovery.
Our services include: A post sequencing service framework to perform large-scale reproducible analyses that run in a high-performance computer cluster with fast, robust data storage. Data provided in detailed reports to assist in the translation. The information can also be provided as raw data on request.
To complement our Genotyping and Phenotyping capabilities, Phenomics Australia expert staff have extensive project management experience in providing genotyping and phenotyping to complement their biology research backgrounds. This includes experience with production of gene variant mice, coordinating and performing demanding phenotyping assays, and providing a range of data management and analysis expertise and services. We are therefore able help define, plan and execute projects running the whole process for you. Full reports will be provided as the work is undertaken and the assigned project officer is always available for follow up questions or adjustments to the work program.