Help with the CNVkit analysis
1
0
Entering edit mode
4.6 years ago

Hi All,

I am confused with the results of CNVkit tool. I am using a flat_reference.cnn against my test sample that has ploidy 4. I am expecting cn = 4 for most of the segments in the .cns file. However, I am getting cn = 2 for most of the segments. Please if someone can explain, why this is the case. Or do I need to change any parameter if the ploidy of the test sample is different from 2? Your quick reply will be much appreciated.

Many thanks, Rav

CNVkit • 2.3k views
ADD COMMENT
0
Entering edit mode

Ploidy of 2x is assumed by default, so yes, Ploidy of 4 has to be specified or you can divide your final results by corresponding factor.

ADD REPLY
0
Entering edit mode

Dear German,

Many thanks for your reply. Do you mean, I should divide the cn values by 4?

Kind regards,

Rav

ADD REPLY
0
Entering edit mode

Hi,

I think you need to find difference from 4 and then divide by 2 and then plus 2 =)

E.g. CN=6 with ploidy 4

(6 - 4) / 2 + 2 = 3 with ploidy 2. That's what is expected.

ADD REPLY
0
Entering edit mode

Hi German,

Many thanks for your answer.

So my understanding is as below :

if cn=6 while using a flat_reference.cnn and a test sample with ploidy = 4, then

6 - 4 = 2 , this would give you the gene gain or loss for a particular segment of a tetraploid sample.

(6-4)/2, this would give gene gain or loss per diploid genome

then why are we adding 2 in the end?

And is my understanding correct for all the steps?

ADD REPLY
0
Entering edit mode

Sure, the understanding is correct! In the beginning we substracted a baseline - 4 copies. So in the end we have to add baseline - 2, as we assume that the organism is diploid. You may skip adding 2 step - but then you'll have a relatvie change and e.g. for X/Y chromosomes it may be crucial.

ADD REPLY
0
Entering edit mode

I understand now. Many thanks for all the clarification.

As you mentioned earlier that ploidy of 4 can be specified in the pipeline also. Where can I specify the ploidy in the pipeline so that I do not need to do the calculations in the end?

ADD REPLY
0
Entering edit mode

Sadly the option I was thinking about is for different reasons. You need to perform calculations yourself, ie.

For homogeneous samples of known ploidy, you can calculate cutoffs from scatch by log-transforming the integer copy number values of interest, plus .5 (for rounding), divided by the ploidy.

https://cnvkit.readthedocs.io/en/stable/pipeline.html

ADD REPLY
0
Entering edit mode

Thank you German for all the above clarifications. Do you think it is appropriate to calculate CNV using a tumour cell line with ploidy=4 against a normal cell line with ploidy=2? If yes, then how can we interpret the copy number from the log2 value?

ADD REPLY
0
Entering edit mode

Basically you have no other choice - you don't have a normal with ploidy of 4 =) copy-numbers have to be corrected for ploidy with the above mentioned procedure - change the baseline from 2 to 4, then calculate differences

ADD REPLY
1
Entering edit mode

Changing the baseline fro 2 to 4 has worked. Thank you so much for all your time and help.

ADD REPLY
0
Entering edit mode

Hi German,

While using a tumour cell line with ploidy=4 against a normal cell line with ploidy=2, if the log2 value of a segment is -0.37681, should I interpret it's copy number as 0.77 or 0.38?

Because log2 = -0.37681 and its antilog would be 0.77.

How should I interpret it's copy number? Sorry, I am bit confused.

ADD REPLY
0
Entering edit mode

hi, log2(CN_tumor / CN_normal) = -0.37681. By default CN_normal = 2. CN_tumor then is equal to 1.549604. And then you need to apply that trick as was discussed before - 4 + (1.55 - 2) * 2 = 3.1. Of course I do not know how CNV-Kit does ploidy correction and these calculations are correct only if CN_tumor is assumed to be 2 by default.

ADD REPLY
0
Entering edit mode

Many thanks for your reply.

I was think the following:

if log2(CN_tumor / CN_normal) = -0.37681

and CN_normal = 2,

then, CN_tumor= (2^-0.37681)*2 = 0.770138593 *2 = 1.540277186

Therefore, CN/diploid = 1.540277186/2 = 0.770138593

Now, if CN_normal = 2, then the CN_tumor/diploid = 0.77

Therefore, if CN_normal = 4, then CN_tumor/diploid should be = 0.77/2 = 0.38

I am more inclined towards CN_tumor/diploid = 0.38 because, if I run the analysis of the same tumor sample with ploidy = 4 against a flat reference, then I get the following result for the same segment:

log2 = -0.387476
Antilog = 0.7645

therefore, CN_tumor/diploid = 0.38225

ADD REPLY
0
Entering edit mode

but CN_normal is not 4. it is 2. your normal sample is diploid. however, I do not deeply understand the design and assumptions of calling, so it is up to you to decide! =)

ADD REPLY

Login before adding your answer.

Traffic: 2683 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6