Question: Copy number variation in normal and cancer tissue
0
gravatar for akij
2.4 years ago by
akij100
akij100 wrote:

What are the potentials of copy number variations in cancer screening. Can CNV be used for cancer detection?

cnv • 955 views
ADD COMMENTlink modified 2.4 years ago • written 2.4 years ago by akij100
2

it can be easily determined that whether a person have cancer or not.

Do yourself a favor and omit the thought that things come easy in this field. I mean no disrespect here, but if you ever think that something is trivial and simple in cancer research, you probably got something wrong.

ADD REPLYlink written 2.4 years ago by ATpoint30k

Cite your sources for the following statements please:

in cancer cell copy number variations are at least 2-3 times higher than normal cells

and

CNV is not used in cancer determination

ADD REPLYlink modified 2.4 years ago • written 2.4 years ago by RamRS25k
2
gravatar for Jean-Karim Heriche
2.4 years ago by
EMBL Heidelberg, Germany
Jean-Karim Heriche21k wrote:

It depends on what you mean by "cancer determination". This paper talks about the potential of CNV detection in cancer screening.

ADD COMMENTlink written 2.4 years ago by Jean-Karim Heriche21k

Thanks. Your paper is the answer I was looking for. Do you happen to know more articles or resources about the potential of CNV detection in cancer screening? It would be nice if you share them. Thanks

ADD REPLYlink written 2.4 years ago by akij100
1

The one posted in the above answer is one of the most recent paper that you can get your hands on. There is another paper which is using Massively Multiplexed PCR Methodology and then employing NGS for finding CNVs. Take a look here. This is more reliant on the method. However, with targeted sequencing, one can target CNVs but more precisely reveals SNVs and INDELS but this is still very new and under exploration. Here is the paper.

My knowledge of amplicon based sequencing is not that high, however, mostly it targets somatic and germline SNVs with a better precision for custom panels. There is not much in terms of CNVs TBH. One algorithm I would encourage to try and test is this.

However, technologies in diagnostic genomics in light of cancer genes are more explored either in forms of amplicons or WES if one wants to use both SNVs and CNVs. Hope this gives you a start point for what you are looking for.

ADD REPLYlink modified 2.4 years ago • written 2.4 years ago by ivivek_ngs4.9k
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