BMR Genomics

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NGS

Target Enrichment ToolKit: from DNA to data mining

target_enrichment_720Target 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.

Requirements

  • 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:

  • organism
  • 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.