Question

Q1) List the limitations and challenges of dideoxy termination method of DNA sequencing?

Q2) In the context of mutation detection, describe the differences between first- and second-generation sequencing?

Q3) 6-year-old child presenting with sensorineural deafness, sequencing of MYO15A gene by Sanger method was performed and showed the following chromatogram:

פ ס פ פ פ פ פ vs 12 5 פס . פ פ פ ס פ ס כ כ : פ פ פ סבא כפ פ פ פ פ פ ס : סס כ : פ פ פס פס פכס כץ פ פ פ

1. Describe the principle of Sanger sequencing method?
2. Describe the DNA change: position, type of variant and genotype?

Answer 1

© limitation or Challenges of dideoxyteumination method Sanger sequencing or dideoxy termination method is expensive and inefficient for larger escale Projects such as sequencing of human genome I Need long time to generate data Ics Scanned with To CamScanner

→ → low throughput of the technique gt cannot quantify genome copies of transcept from DNA ICONA librasies → labor Intensive cs Scanned with CamScanner