Target Enrichment (TE) approach allows to selectively capture genomic regions of interest from a DNA sample before sequencing. Focusing on a limited set of genes, TE is an effective tool to detect disease-causing variants providing greater depth of coverage for increased analytical sensitivity and specificity.
TE ToolKit is a comprehensive service designed to simplify and speed up the identification and interpretation of genetic variants.
What we do
- design and optimization of custom panel
- library preparation
- sequencing and quality control
- bioinformatic analysis
- use of the proprietary software SNP-shot, a variant selection and annotation tool to customize your research, based on self-defined filters.
- use of the proprietary software PickPrimer, a tool to quinckly design all primers for variant validation by Sanger sequencing
Note: if you are interested only in one or some phases of the service please contact us.
- sample: Human genomic DNA
- quantity: 2 ug
- concentration: 50 ng/ul in ultrapure water, no EDTA
- quality: high molecular weight DNA (no smear in gel <2,5 Kb); OD 260/289>1,8
- shipping: + 4 °C or dry ice if delivery times should be more than 24 hours.
- sample number: 44 or 88
Note: for target enrichment experiments on different species please contact us.
What we need to know
To prepare our best service offer, we need to know:
- list of genes (including related isoforms) or genomic regions of interest (target 1 kb – 5 Mb)
- sample number
- average coverage per sample
Note: for target size greater than 5 Mb please contact us.