Whole exome sequencing

Whole exome sequencing

Rapid and cost-effective solution for exome analysis based on the most advanced design and most proven SureSelect technology

Whole exome sequencing (WES) is the most effective way of studying coding regions of the genome. For example human exome consists of about 20.000 protein-coding genes, constituting only about 1,5% of the genome but up to 85% of disease-causing mutations can be located within exome. Exome sequencing enables to identify common variants (SNV), copy-number variants (CNV), small insertions or deletions (InDel) and even rare de-novo mutations.

In our sequencing lab we utilize probe hybridization technology developed by Agilent Technologies, Inc. that has proven to be very efficient and reliable.

We can provide whole exome sequencing solution not only using human DNA but for other model organisms too – in case of interest please contact us.

 

Exome sequencing overview

 

Technology

SureSelect XT HS enrichment system (Agilent Technologies) utilizies RNA probes to hybridize to target DNA regions. The main advantages of this technology are:

  • RNA:DNA hybridization is more efficient than DNA:DNA hybridization utilized by other systems available on the market
  • Molecular barcodes (MBC) used in XT HS can be used to achieve more accurate results during data analysis
  • Sequencing libraries can be generated even using DNA from FFPE samples
  • This system is not limited to exome sequencing but can be utilized basically for any targeted panel of your choice
  • Human All Exon V7 system has a target size 35,7 Mb, design size only 48,2 MB and excellent uniformity. Hard-to-capture exons can be accessed thanks to accurate targeting.
  • Coverage across reference sequence: 99,6% (CCDS and UCSC known genes)

 

 


Laboratory processing

You perform DNA isolation. Then, in our lab your samples will be processed as follows:

  • Sample QC
  • Library preparation
  • Hybridization probe based exome enrichment
  • Quantification of libraries by qPCR
  • Sequencing on Illumina systems - we recommend using for example NovaSeq6000 SP lane, paired-end, 150 b, having output 600-800 million reads per lane and resulting in coverage >150x for 16 samples. 
  • Data evaluation

Results guarantee

The sequences obtained will be sorted according to the combination of indexes into files representing individual samples and analysis of sequencing quality indicators such as number and length of sequences, phred score, %GC, duplication level, etc. will be performed.

As output you will receive data in FASTQ format divided into files according to individual samples. Upon request, the outputs can be processed in another form. Please specify this when ordering.

We can perform also data analysis including data QC, mapping to the reference sequence, variant calling, filtering of variants and annotation. You will receive a comprehensive data analysis report.


Processing time

Less than 4 weeks (data analysis not included)


Sample requirements

Follow our Sample submission guidelines.


How to order the service

The exome sequencing can be ordered and commissioned online.

 

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