Exome sequencing

Whole exome sequencing – also known as targeted exome capture - is a strategy to selectively sequence the coding regions of the human genome to identify functional variations associated with a phenotype or pathology. The exome sequencing are based on a first step of enrichment of the targeted regions of the DNA (mainly exome) by hybridization with probes followed by next generations sequencing. Then the data are treated and analyzed to “hopefully” pick point the functional variation.

SERVICE:

DNAVision provides Capture using SureSelect Human All Exon 50Mb – Agilent / Sequencing using Hiseq2000, cycle 2x100pb.

ASSETS:

Highly skilled geneticians, biostat and bioIT team
Proximity of service
Guarantee of results
Comprehensive reporting: from raw data to ready to use information

WORKFLOW:

Through our collaboration, DNAVision will provide you:

The Support you need to design your study
The highest level of quality thanks to a standard workflow with quality control in all steps of our process
- Samples encoding in LIMS
- Sending of an acknowledgement of receipt
- Sample quality control (QC). Clear guidelines on sample preparation and requirement are sent before the beginning of the project
- Sample preparation:
  - Paired end library preparation using Spriwork station
  - Capture using SureSelect Human All Exon 50Mb – Agilent
- QC before sequencing
- High throughput sequencing with Hiseq 2000 – cycle 2x100pb
- Data and run QC
- Bioinformatic analysis (Our pipeline is continuously improving. Please contact us for a complete description)
  - Raw data with QC report (sequences in fastaQ format).
  - Sequences in Fastaq format after filtering low quality reads, trimming of low quality sequence ends, trimming of adapters.
  - Map reads to reference human genome (Coverage depth distribution of the mapped reads along exons present in the capture system).
  - Mutation identification (Identification of SNPs, Indels),
  - Mutation description : quality scoring, positioning, statut, ID number if in database, functional impact (in exons),…
  - Clear and complete Reporting
  - Specific Pedigree bioinformatics analysis on request
The support you expect to interpret and to highlight your results