Severe ME Day of Understanding and Remembrance: Aug. 8, 2017
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DNA exome, independent researcher

Discussion in 'Genetic Testing and SNPs' started by parpar, Oct 29, 2017.

  1. parpar

    parpar

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    Hello , im a CFS sufferer since 2009 . it started at the age of 18 . I had to give up my hopes and dreams just like many of you . I’m a Genetic and biotechnology major . I’m an independent researcher, my goal is to study this disease based on Genetic results specifically Exome sequencing in order to understand this condition .

    I’m asking if anyone has his Exome result and willing to share it email me at : DNAprojectex@outlook.com

    I need the ( result variation ) file , which should include the SNP and the InDel files to be specific the CSV files

    My Exome sequence is worthless so is yours by its won , but together we can achieve something .
    i'm tired of waiting for people to tell me whats wrong with me , this is why i'm taking matters in my own hands
    i spent the last year searching in the ClinVar data base with no results ,

    Your personal data will not be shared with anyone . after we find something the result will be sent to every participants

    First step to cure is to understand this condition .

    If you have any questions email me at the same email
     
  2. pattismith

    pattismith Senior Member

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    @parpar , I love your project. It is what I have dreamt of.

    I wish I could participate, but I only have my 23andme data which is far from what you need....
     
    ScottTriGuy likes this.
  3. parpar

    parpar

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    if people do send me their data and we find something in common , then the next step is to see if the result is included in the 23andme or not
     
    ukxmrv, ScottTriGuy and pattismith like this.
  4. necessary8

    necessary8

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    Ron Davis sequenced the exome of 20 very severe patients (to get better p values) in his Big Data Severly Ill Study. They promised to share that data publicly, I don't know what happened with that. I imagine if you wrote to OMF and explained your background, they would give you access to it, and you can help them with data analysis.

    Gathering more exome sequences of patients is also good, but I find it hard to imagine many people would have such sequencing done. But maybe you'll find a few.
     
  5. parpar

    parpar

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    i did write to them , they said they haven't done it yet and told me to contact them in 3-6 months
     
  6. Learner1

    Learner1 Professional Patient

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    So, can you do anything with 23andme resilts?so many of us have them.

    Also, have you looked into the genes the researchers at the OMF Symposium found in common in many patients?

    I would love to see a description of what they found, suitable for an intelligent layperson.

    Thanks for your good work and any light you can shine on this topic!
     
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  7. parpar

    parpar

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    the problem with 23andme is , we still don't know the gene/s that cause CFS . are they covered in the 23andme result or not .this why exome sequencing could reveal much more than 23andme .
    regarding OMF i contacted them they haven't done it yet
     
    ukxmrv likes this.
  8. Learner1

    Learner1 Professional Patient

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    From what I've seen, its not one gene that causes it. Its the interaction with the environment, as described in Naviaux's cell danger response paper, and epigenetic changes? Of course, our unique SNPs can create tendencies toward problems.

    I'm a bit foggy this morning, but I remember someone at the OMF Symposium saying they'd found 370 or so genes common to PWME, then narrowed down to 200+, then to something like 118. Neil McGregor is a leader in this area, but someone else from across the globe had done a similar analysis.

    I've seen COMT come up consistently over the years.

    My doctors and I have linked my issues to COMT, HLA, NAT2, PON1, SOD2, TCN2, MTRR, MTHFR A1298C, CBS, etc. and compensating for these has greatly improved my function. Next on our list is to better understand immune function genes and how they may be affecting me. And genes affecting mitochondrial function.

    But, this is in its infancy - there is a lot more to be learned, and it would be helpful to better understand why some of us tend to be canaries in the coal mine.
     
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  9. parpar

    parpar

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    it is easy to get to that assumption if you are testing gene expression , of course you will get 370 genes that changed their level of expression but this does not mean that there is a mutation in these genes .
     
    ivorin likes this.
  10. Learner1

    Learner1 Professional Patient

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    But, aren't our experiences/symptoms/day to day biochemistry based on how our genes are expressed?

    I keep reading how gene expression can be turned on or off depending upon environmental factors. Its not just which ones we have, its what they're doing, and how they change our system function.
     
  11. pattismith

    pattismith Senior Member

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    @parpar ,where do you suggest we could do the exome analysis?

    other problem with 23andme, is that I observed that they seem to change the snp they test from time to time, which make it difficult when you try to compare data from different people!
     
  12. parpar

    parpar

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  13. pattismith

    pattismith Senior Member

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  14. parpar

    parpar

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    yeah you are right but if you want to solve this condition you can't just take gene expression because it changes from person to person , if 2 people face the same stress they will not react the same . but why take the variants (gene expression ) when you have the constants which is your DNA results
     
  15. parpar

    parpar

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    if you want to do an exome sequencing send me a massage on the site's chat
     
  16. Learner1

    Learner1 Professional Patient

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    Because the genes are not always expressed. They're important, and some are "show stoppers," but the studies seem to show that 40-70% of our issues are driven by environmental factors.

    Naviaux also describes interactions with gene expression and epigenetic here:

    http://www.sciencedirect.com/science/article/pii/S1567724913002390
     
  17. undiagnosed

    undiagnosed Senior Member

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    Hey @parpar, I'm doing a similar thing but with metagenomics looking for pathogens. I started a thread here about it. Just wanted to let you know in case you want to chat or collaborate.
     
    pathogenunknown and ivorin like this.

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