Question: can delly identify multiple copies of a unique deletion?
gravatar for Assa Yeroslaviz
5 months ago by
Assa Yeroslaviz1.2k
Assa Yeroslaviz1.2k wrote:

Let's say we have the following situation.

We have a unique breakpoint in mtDNA (a deletion in the mtDNA). If by chance this molecule is replicated and now this unique molecule exist as multiple copies.

How would delly handle this situation? Can it distungish how many molecules exits in the sample? if by counting this unique breakpoint only once with the software, is it be possible that we are not considering the abundance of this unique breakpoint.

I would appreciate any hints also as to where I can look it up.



cnv delly • 154 views
ADD COMMENTlink modified 5 months ago by Vitis2.2k • written 5 months ago by Assa Yeroslaviz1.2k
gravatar for Vitis
5 months ago by
New York
Vitis2.2k wrote:

Considering inheritance of MtDNA as haplotypes, wouldn't any heterozygosity of the deletion detected indicate some sort of mosaicism, i. e. cells containing both MtDNAs with and without the deletion?

Quantifying them is a whole different problem since there probably are PCR amplifications involved in library preparation before sequencing. One approach to take care of that is to use ThruPLEX tag-seq, in which each molecule is tagged with a barcode before PCR, so all sequencing end results could be traced back to each molecule by the barcodes. This may provide a more accurate estimation of the numbers of original MtDNA with or without the deletion.

ADD COMMENTlink written 5 months ago by Vitis2.2k

thanks for the explanation, but this was not my question. I am not interested in the biology behind it. I would like to know if, when using the tool delly for quantifying breakpoints, the problematic of having the same molecules multiple times is accounted for.

Can delly quantify the number of copies, or just output how many breakpoints exit in the data set?


ADD REPLYlink written 5 months ago by Assa Yeroslaviz1.2k

I'm a bit confused. Usually variant callers like Delly would give a "depth" parameter for the variants. Isn't that what you're looking for? Of course, "depth" is not number of copies or number of molecules, they're just related. You need other approaches to track down the number of molecules.

ADD REPLYlink written 5 months ago by Vitis2.2k
Please log in to add an answer.


Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 1678 users visited in the last hour