WGS (whole genome sequencing) findings possibly linked to mitochondrial/metabolic dysfunction – anyone with similar results?

All 4 were high impact frameshift or missense variants. I think the issue is clearer in the gene.iobio plot of the gene for my data. There are way too many missense (orange squares) and frameshift (red circles) variants. It's is obviously garbage data despite good sequencing depth for these.
have you done some more research? I have been referred to the mitochondrial and neurological unit. They looked at my results and were very interested in the SLC25A5 (and ATAD3A and SCN4A). One ME study found that SLC25A15 was something that many patients had findings in.

I use ChatGPT 5.0, and it does a great job analyzing, but if you want to do a thorough analysis I would use Franklin Genoox. The genetics department at my hospital use it. ChatGPT can help you with it. Upload the VCF. Add phenotypes (fatigue, pain, PEM, etc) and enable them. Then filter and remove variants that are common (Allele frequency less than 1%). You can then go to prediction and filter for that. After that you can export it and have ChatGPT, Grok or other AI tools analyze it. When doing it include info about your health. I found some journal documents from my doctor that included when I got sick, my symptoms and the test I have done.

I don't know, but I think I'll end up with a mitochondrial diagnosis. Whether the ME diagnosis will prevail is unknown. If you have the capacity I would do some more digging. I asked about SLC25A5 and most models thought it was very interesting that you and I have many variants in the same gene. A gene that is crucial for energy.
 
Back
Top Bottom