Unconfigured Ad

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts
  • younko
    Member
    • May 2014
    • 24

    CNV analysis from Exom-seq data

    Hello I have a question to analyze the CNV from exome-data using NGS..

    I have family (father, mother, affected patient, non-affected sibling)

    I would like to find CNV which is associated with specific disease.

    I have used CNVnator and got the list of CNVs.

    My qustions is how can I filter the CNV which are not associated with specific disease?

    This disease is known to be inherited recessive way.. which means that specific CNV we found from patient can also be detected from sibling or father or mother too. In the same way. (even though the ration would be different..?? right?) In other words, since this disease is recessively inherited, patient might have homozygous deletion/duplication on the other hands, other family member might not have such CNV or heterozygous deletion/duplicationn....... So, in the latter case, disease associated CNV could be detected from all family member.. So, we could not find real CNV associated with a specific disease... How can we handle this problem?



    One more!! Can we classify the CNV as homozygous or heterozygous ?????

    Could you please somebody help with this?

Latest Articles

Collapse

  • GATTACAT
    Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by GATTACAT
    Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
    07-01-2026, 11:43 AM
  • SEQadmin2
    Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by SEQadmin2


    I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.

    Here are nine questions we think about, in roughly the order they matter, before...
    06-18-2026, 07:11 AM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, 07-02-2026, 11:08 AM
0 responses
26 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 06-30-2026, 05:37 AM
0 responses
24 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 06-26-2026, 11:10 AM
0 responses
24 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 06-17-2026, 06:09 AM
0 responses
55 views
0 reactions
Last Post SEQadmin2  
Working...