Concentrate your studies on the exome part of the genome
Benefit from a cheaper, faster and still efficient strategy in comparison to whole genome sequencing.
Most disease causing variants lie within the exonic regions, splice sites, or promotor regions. These regions comprise about 2% of the human genome. Sequencing the exome provides a cheaper and faster analysis of these regions compared to whole genome sequencing. Exome sequencing is an efficient strategy for reading the parts of the genome that are believed to be the most important for diagnosing diseases.
Eurofins Genomics offers whole exome sequencing based on in-solution hybridization or as a PCR-based capturing. Get the greatest flexibility and select the best suitable approach for your research.
- Submit 1-5 µg of RNA-free genomic DNA (NGS grade) of molecular weight >40kb, Nanodrop A260/280 ratio >1.8; A260/230=2.0-2.2; and at a concentration of ~50 ng/µl
- Or 5-10 ml of fresh Blood with anticoagulant in vacutainer and shipped in cool packs to eurofins facility.
- RNA free NGS grade gDNA isolation will be carried out using commercially available DNA isolation kit.
- Further quality checking will be carried out using agarose electrophoresis and DIN value estimation using Agilent Tape Station. Quantification will be carried out using Qubit 3.0 fluorometer.
- Exome library preparation will be carried out using predesigned and hybridization based exome kits available from Illumina and Agilent (Choice of 3 different capture kits; Illumina Nextera Rapid Exome 37 Mbp / 62 Mbp or SureSelect Human All Exon V5 (50.4 Mbp).
- Preparation of indexed exome library to captor exons only or exons including UTR regions for sequencing on illumina Platform as per the requirement.
- Library validation will be carried out using High Sensitivity D1000 Screen tape using Agilent Tape station kit.
- Prepared library will be sequenced using 2 x 75 bp or 2 x 150 paired end sequencing using latest sequencing chemistry on NextSeq 500.
- Delivery of data up to 100X coverage depending on the kit used during library preparation.
- Sequence data (base call files or bcl files) generated from the sequencer are de-multiplexed if required and converted to FASTQ files.
- Raw data will be available for download as a compressed archive of FASTQ files for each sample.
- Raw data can be post processed upon request.
- 5-7 weeks after arrival of your samples and all necessary information. It depends upon data size, scope, technology selected, number of samples and complexity of the project. The TAT is offered expecting no biological or technical difficulties for processing of all project samples.