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Targeted Re-Sequencing

Targeted re-sequencing involves the isolation and sequencing of a small subset of the genome (e.g. the exome or a particular gene region). This can be cheaper than sequencing the entire genome and allows detection of low levels of variation, e.g. rare alleles that cause disease phenotypes.

Platform Illumina MiSeq, Ion Proton, Ion PGM™
Deliverables
  • Sample QC report
  • Analytical report (including sample and library preparation – mate pair, pair end or single end)
  • Raw FASTQ files
Research Objectives Targeted re-sequencing allows researchers to focus on a particular region of the genome from as little as a few kilobases extended to an entire exome or larger.
Related Services
  • Exome sequencing
  • Axiom Plate Array
  • Drug Metabolising Enzymes and Transporters Array

Overview

Targeted re-sequencing involves the isolation and sequencing of a small subset of the genome (e.g. the exome or a particular gene region). This is more cost effective than sequencing the entire genome and allows detection of low levels of variation, e.g. rare alleles that cause disease phenotypes.

Service Details

The CPGR will accept purified DNA samples that conform to the minimum requirements. DNA samples will undergo QC using the Quant-iT™ PicoGreen® dsDNA assay kit. The genome is fragmented and the fragments of interest are captured by hybridisation to a bead-based probe followed by removal of unbound fragments in a wash step (“solution-based capture”). The target regions are then sequenced on one of our supported NGS platforms as per project specifications. The raw FASTQ files are used as an input for standard bioinformatics analysis.

Service Deliverables

The client will in the first instance receive a sample QC report detailing whether the integrity of the sample meets the requirements for the application. Following sequencing the client will receive an analytical report detailing the parameters and the results of the sequencing run including the raw FASTQ files. If required, bioinformatics support is available.

Starting Material

  • DNA Quantity: ≥  6 µg
  • DNA Concentration: 60 ng/µl