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You can sequence directly your pcr products avoiding fragmentation of PCR.

What can I get with this technology

Direct haplotype analysis of variants found in your targeted amplicon. Allowing:

  • Study of the procedence of a specific mutation
  • Biallelic mutations study
  • Structural variants analysis, restricted to your amplicon size
  • Evaluation of CrisprCas9 cuts by structural variant analysis of the region.
*All these analyses can be done in various samples by multiplexing

 

What do I have to do?
  1. Prepare your sample: PCR Amplicons (fill the formulary at the website)
  2. Send your samples to our lab
    1. Library preparation
    2. Nanopore sequencing + data analysis
    3. Report to the client
  3. Get Access and analyze your results

Time: 3 weeks aprox

Estimated prize: from 400€ (depending on experiment design)

Results obtained by this technology

Coverage: we can achieve any desired coverage.

Average read length: depending on amplicon size

Our experience

Haplotype analysis

We have resolved the haplotype of a mutation, defining the precedence by getting 13 different common markers in different patients. (Articulo:  "Antithrombin p.Thr147Ala, the first founder mutation from African origin responsible for inherited antithrombin deficiency" in press Thrombosis and Haemostasis)

We have resolved the study of two biallelic mutations:

With this methodology we have been able to define the biallelic status of two pathologic mutations in a patient with AML. By obtaining the direct sequence of the whole amplicon we can define the presence of both mutations in different alleles. This methodology avoid family studies, cell culture whith the consequent time and money cost.

 

We have studied CrsiprCas9 yield: