Exome Sequencing


What is an Exome?

Sequencing an exome is a technique that enables specific targeting of where most of the known disease causing variation areas are in human (or mouse) genomes - that of the coding regions, which compose less than 2% of total bases.


In sequencing - an exome is a term generically used for the process of 'library construction, exome enrichment, sequencing and basic analysis'. Exomes can have a broad range of specifications and methods when considering such things as; starting template needs, designed regions for enrichment, library methodology, product design, amount of sequencing, coverage performance, and the algorithms used in SNP and indel calls. 

On top of this is the ability of the laboratory to consistently perform the method to a reliable quality.


Reliable and Consistent Quality

AGRF's exome services have been accredited to the ISO/IEC 17025:2005 standard by the National Association of Testing Authorities (NATA), Australia. 

Illumina and Agilent, who are our commercial providers of exome enrichment reagents and sequencing systems, have endorsed AGRF as a certified service provider.

Partnering with AGRF as a supplier of exome data can be done with confidence. We have a proven track record of data supply to accredited molecular diagnostics interpretation and reporting pipelines.


Exome Options at AGRF

Exome sequencing at AGRF includes sample quality control, Illumina library preparation, exome capture and sequencing on the HiSeq 2500  using a paired-end (2x100) protocol.

HUMAN Data/Sample


Minimum Submission   


Agilent SureSelect Human All Exon v5   (51Mb)   4Gb 3 samples
Agilent SureSelect Human All Exon v5+ UTR (75Mb)
6Gb 3 samples
Agilent SureSelect Human All Exon v6 (58Mb) 5Gb 3 samples
Illumina Nextera Rapid Capture (37 Mb) 6Gb 12 samples
Agilent SureSelect XT Mouse All Exon (50Mb) 4Gb 3 samples











Data analysis and delivery

Data delivered via secure FTP

Raw data: FASTQ files


Data analysis

  • - Quality report (% reads on target)
  • - Binary Alignment Map (BAM) file
  • - Variant Call Format (VCF) file


Our customised approach

For other exome capture products and custom capture projects to sequence specific regions of interest we welcome your enquiry.


Want to learn more and find out about our optional data analysis? Contact your local account manager.