Target sequences are amplified in different individuals with PCR. Then the amplified products are sequenced and analyzed. PCR re-sequencing has the following applications:

1. Single-gene genetic diseases: pathogenic gene research and gene diagnosis;
2. Complex diseases: relevant gene research and drug susceptibility analysis;
3. Association analysis between the phenotypes and nucleic acid level variation with mutation, insert, delete, etc.

Workflow:

Figure 5. Workflow of PCR re-sequencing

Bioinformatics Content:

Bioinformatics contents consist of basic analysis based on the PloyPred software.

Sample Requirements:

• DNA templates and primers required for PCR or sequencing:
  Requirements are a genome DNA concentration of 0.1-1 μg/µL, with a volume of ≥ 20 μL per PCR reaction. The primers should be dry powder (1 OD).

• PCR products:
  Sample concentration should be ≥ 50 μg/µL for unpurified PCR product and ≥ 20 μL; for purified PCR product. The corresponding gel electrophoresis result should be provided.

Turnaround Time:

The turnaround time  is determined by the number of samples and sequences.

Completion Milestone and Result Submission:

Completion milestone:
Project completion is based on a quality score of Q 20.

Results submission:
Results consist of a sequencing peak figure, basic analysis, and the final report.