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

  • SEQadmin2
    Advanced Sequencing Platforms Tackle Neuroscience’s Toughest Genomics Problems
    by SEQadmin2



    Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
    ...
    07-09-2026, 11:10 AM
  • SEQadmin2
    Cancer Drug Resistance: The Lingering Barrier to Rising Survival
    by SEQadmin2



    Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.

    There is no single reason why many patients don’t respond to treatment as expected. Cancer is...
    07-08-2026, 05:17 AM
  • 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

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by SEQadmin2, Today, 10:26 AM
0 responses
10 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-09-2026, 10:04 AM
0 responses
24 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-08-2026, 10:08 AM
0 responses
16 views
0 reactions
Last Post SEQadmin2  
Started by SEQadmin2, 07-07-2026, 11:05 AM
0 responses
33 views
0 reactions
Last Post SEQadmin2  
Working...