Questions pertaining to variation in the number of copies of a chromosomal region.

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12
votes
2answers
275 views

What is the tRNA gene copy variation between different yeast strains?

I just started working on predicting steady-state protein levels from different codon usage bias measures. I have whole-genome sequences (it's NGS data) from different strains of S. cerevisiae and S. ...
9
votes
1answer
55 views

When do plasmids replicate relative to its host cell cycle?

For plasmids is so much shorter than their host cell's genome (about 1/1000 in my case), it will take only 1/1000 time for it to replicate. With respect to cell cycle, when will that replication ...
8
votes
1answer
227 views

What is the difference between copy number changes with and without allelic imbalance?

I require some clarification on copy number aberrations (structural gain and loss in chromosomes). From what I understand, gain/loss per se can be divided into two types. Consider two alleles, A and ...
5
votes
1answer
2k views

What is a focal copy number variation?

Often, genetics studies, especially genome wide ones, talk about "focal copy number variations" in genes or regions of the chromosome. I know what a copy number variation is. What does "focal" mean, ...
4
votes
1answer
59 views

Is copy number variation dynamic?

Is there any evidence showing that copy number variation changes over time? I'm wanting to model interactions in expression level as a dynamic bayesian network, but an assumption my approach will need ...
3
votes
2answers
25 views

Deciding a reasonable threshold for copy number variation in a CNV (SNP array) TCGA dataset

Is there a methodology to select a reasonable threshold for copy number variation in a CNV (SNP array) TCGA dataset, to define when there is a significative alteration? Can I download CNV data for ...
2
votes
2answers
123 views

How does the telomere repeat sequence vary in Eukaryotes?

Question: How does the telomeric repeating sequence vary in non-vertebrate Eukaryotes? If you know the repeating sequence of a given species I would appreciate hearing it. Background: Telomerase is ...
1
vote
1answer
15 views

What's a segmented copy number profile

I am studying copy-number variation. I am reading C. H. Mermel, S. E. Schumacher, B. Hill, M. L. Meyerson, R. Beroukhim, and G. Getz, “GISTIC2.0 facilitates sensitive and confident localization ...
1
vote
0answers
45 views

“Gold standard” for CNV detection methods?

Is there a generally accepted "gold standard" for testing the performance of CNV detection methods? I'm interested both in learning about existing datasets that may serve as gold standards for CNV ...
0
votes
1answer
36 views

How copy number variation thresholds are defined in GISTIC

I am having trouble trying to understand how GISTIC discretize copy number variation to values -2, -1, 0, 1, 2. I am using TCGA copy number variation for ColoRectal Adenocarcinoma. In cBioPortal FAQ ...