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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Genomics Team
genotyping.support@anu.edu.au

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About

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.

Products

Same inclusions as for Standard package except: Minimum 48 samples for ~5Gbp output per sample

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Same inclusions as for Standard package except: Minimum 32 samples for ~7Gbp output per sample.

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Amplifluor assay (<20 samples)

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Sanger assay (<20 samples)

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Project design, DNA preparation & QC, library preparation, sequencing running and analysis.

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How to order

Please complete the appropriate form below and submit to the email contact provided below.