wigglethemouse
Senior Member
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You might be interested in yesterdays presentation by Solve ME/CFS - currently 10 patient WGS study by a UAB group working with Jarred Younger's study group patients. Good presentation.
Would anyone be interested in doing a patient collaborative study looking at whole genomes or am I a lone nutter? I have a small list candidate genes/risks that I want to verify prevalence of and also want to see if the algorithms can find other risks. I have also developed algorithms that can look at all copy number variants and structural variants in a genome as well. The algorithm could automatically assess loss of function, missense, CADD scores, Polyphen/SIFT deletriousness scores, etc.
If it says it's likely benign, then it's likely benign. However, the submitters that classified it could have been wrong. If there is only 1 submission and no research, you can't know for sure. But if the CADD score is over 20 without 1 submssion and no research, I would treat it as a suspect and bookmark it to see what happens with further research. If it's over 15, it's a potential suspect in my eyes, but variants with a score over 20 usually bear more weight from my observations. But that's not always the case as CADD scores can be off.@kday
I re-entered my DNA and was able to save the reports this time...thank you.
So mine says: hetero for Ehlers-Danlos syndrome 7A
If that is autosomal dominant, then: in theory I have this.
I've got "issues"..but I don't "have" full bore EDS.
so: I still don;t really understand what this stuff means. Or why would it say Likely benign- when it also says: you have it.
Since I am collagen obsessed at the moment, I'd like to understand this: should I start a thread? Does somebody else understand this?
Ah, nevermind my previous post. Perhaps my mind is getting too creative. I guess I am just sick of things moving so slow. It's been a decade for me and I feel like I nearly gave up completely not too long ago.
Even with more recent files, some MT locations were offset by 1 and have have since been corrected. Well worth everyone with 23andMe data downloading a recent file before trying your app. It's from the same sample as before, but just cleaned up data as 23andMe learns more about mistakes in their chips or rsID's change.Because if so, you need to download an updated file at https://you.23andme.com/tools/data/download/
Any plans to work with Data Labs full genoma file? I can donate mine if it helps you for development?
It's designed to work very well with such files.Any plans to work with Data Labs full genoma file? I can donate mine if it helps you for development?
THank you! bizare my report from them, said I had a lot of drug interactions and here I do not or any genetic condition either even though I think the EDS gene is mutatedIt's designed to work very well with such files.
I do not or any genetic condition either even though I think the EDS gene is mutated
I have read a bit about Tenascin-X deficiency, it seems it can cause the exact same symptoms as EDS but it's hard to test for.I have EDS without a known mutation. The hypermobility type hasn't been unpicked properly yet; it's clearly heritable, but we don't know exactly how.
HLA is a complex topic, and is a bit over my head, but the short answer is yes.Thank you for sharing your app @kday
Is there any web you can get the HLA variants with your VCF file ?