I am trying to better understand the scope of DNA replication and sequencing errors, e.g.
1. I have seen similar error rates of 10e4 to 10e5 for cell & instrumental DNA replication, correct?
2. Is the way DNA sequencers adjust for errors by picking the majority of "reads"?
3. If the DNA is mixed with a small group of mutated cells, could that mutation be called error?
4. How does one distinguish mutations on opposite alleles vs. in different cells?
5. In DNA from a mixture of cells, how to tell if two mutations are in the same or different cells?
6. Is there a reference that discusses such potential pitfalls?
7. Have there been any recent papers (
There are many sequencing technologies available today, so there is no single answer to most of your questions. On top of the many new sequencing technologies we have new technologies for single cell isolation, or chromosome sorting etc that can be used to sort out some of your other questions. It's all way more than you can expect anyone to answer here.
I recognize there are special techniques which can improve accuracy but I believe most, if not all, current methods are not error-free for large population studies. Thus, curation is critical, so I wonder if different error rates have been detected between UK, US, and other biobanks to enable researchers to choose wisely. Has anyone looked into this?
- Badges
- Science method