Exome and whole genome sequencing

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.

DNA preparation: Pure + QC, from any tissue/blood (tube) »

Pure + QC, from any tissue/blood (tube)

Exome NGS – bulk service package - option 1 »

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

Exome NGS – bulk service package - option 2 »

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

SNP validation - amplifluor »

Amplifluor assay (<20 samples)

SNP validation - sanger »

Sanger assay (<20 samples)

Whole Genome or Custom NGS »

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