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Dr. Saumya Jamuar recommends TruSeq Custom Amplicon for detecting mosaicism.

  • Writer: Lili Li
    Lili Li
  • Jan 3, 2019
  • 1 min read

"Sanger sequencing has a limit of detection of about 15–20% for mosaic variants. When trying to detect mosaicism, we showed that the proportion of these variants can be as low as 5% and Sanger sequencing would not be able to detect these variants. Using TruSeq Custom Amplicon, we could easily detect mosaicism down to a theoretical limit of detection at 1% based on our calibration samples" "MiSeq Reporter was the right tool to call the variants. .


Interview script

https://www.illumina.com/science/customer-stories/icommunity-customer-interviews-case-studies/jamuar-kkwch-interview-mosaic-mutations.html


Article

"Somatic mutations in cerebral cortical malformations" N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

https://www.ncbi.nlm.nih.gov/pubmed/25140959


Youtube talk

https://www.youtube.com/watch?v=pzHzly_9pkc

 
 
 

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