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Whole Exome Sequencing
- Focus on selected regions and small variations within a genome
- Confine observations to the protein coding regions of a genome in a diagnostic related setting
- Reduce costs and turnover time for recurrent detection in a long term study
Considerations before starting a whole exome sequencing project:
- Which organism and reference genome?
- Aim of the study?
- Required coverage?
Let us guide you – from design to analysis
Example projects using whole exome sequencing:
- Single nucleotide variations (SNVs) and small insertions and deletions (InDels) observations for cancer samples
- Comparing SNV profiles
- Time series observation of mutagen treatment consequences on protein modification
Applications related to whole exome sequencing:
- Eukaryotic resequencing
- Microsatellite marker development
For further reading and a detailed technical description, please download our Application Note Illumina Whole Exome Sequencing (see related downloads).
The results produced by our analysis module help answer two main questions of a resequencing of a eukaryotic exome aiming at detecting variations to a pre-annotated reference exome.
- How well was the target exome covered? (see Table 1)
- Which are the single nucleotide variations and small insertions/deletions in comparison to the reference genome and which are the effects of these detected variations on the protein level? (see Tables 2A and 2B)
- Which of the detected variations are also known and listed in public databases (e.g., ClinVar - NCBI - NIH)? (see Table 3)