
Exome and whole genome sequencing
The Australian Phenomics Facility experienced team of genomic and bioinformatic specialists offer exome and whole genome service packages built around researcher “end-to-end” requirements and provide a number of tools not otherwise available in a standard sequencing service.
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The APF experienced team of genomic and bioinformatic specialists offer exome and whole genome service packages built around researcher “end-to-end” requirements and provide a number of tools not otherwise available in a standard sequencing service.
The sequencing services we provide:
- 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.
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Please complete the appropriate form below and submit to the email contact provided below.