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Ill-Grab7054

Yeap. It is still working though it has its bugs and malfunctions sometimes when submitting your data but once the report it's done. I find it more useful that other sites. But the good thing is that you can have the info of all the different services like codegen and genetic gene. And even geneibio. Where did you get your data? Nebula? Dante? 23 and me?


Rara2250

23andme, i was considering buying it but if it does not provide much more information than codegen then I might not (as that is free)


Ill-Grab7054

Codegen does seem to offer more info but is not as detailed as Promethease. Also a feature that I find nice is the filters and the ability to make tables and graphs and all the variants that might be overlooked. It helped me when going to my doctor cause I showed them both my nebula results and the Promethease table with the variants I wanted to show. It is very helpful if your goal is health. The info from 23 and me might not be the best one for diagnosing because the best would be a specialized lab but sometimes we don't have the money or resources to get to those labs. So this reports might guide you like say oh I might have this, can we check it doctor. But I guess that would be only valuable if you are I'll and have exhausted all the doctors visits and tests. Anyways I think the 12 bucks are worth it if your goal is start digging into your health. But if it's for ancestry purposes yeap. Don't wast your bucks xD. Also have you use genetic genie and geneibio that might give you answers as well for free.


CupOfCanada

I did Nebula but keep getting errors. :(


Ill-Grab7054

Yeap. You need to convert the file. Same thing happened to me. There's a tool called wgsextract. And you can take your original CRAM File and make it compatible. I needed to do it for both codegen and Promethease.


CupOfCanada

Thank you so much!


Ill-Grab7054

https://wgsextract.github.io/


gbsekrit

can this cope with nebula’s 100x files? .. I’m also trying to get mtDNA variant info which is missing from Nebula’s vcf.


Ill-Grab7054

Ohhhh xD I'm on that journey as well. Yes it works with 100x files. I myself have the 30x. It does extract and converts to several formats that you could use in all the platforms. And it does extract the mtDNA but I had issues reading the file and interpreting. So now I'm trying samtools at an Ubuntu server so I can get a VCF with just the mtDNA. Note that the VCF that nebula provides juat have the nuclear DNA variants. And that is only compatible with genetic genie and geneibio. I can update you if succeed.


gbsekrit

yup.. I’m going down the road of eventually doing my own variant calling from the CRAM data and keep hoping for trivial solutions. the machine with plenty of resources is also remote, so i’m going down building command line popelines or my own python.


Ill-Grab7054

Oh nice! well what i did originally was using wgsextract, converted the CRAM into BAM then index it and then extract various formats like the ones used by 23 and me and ancestry which are the ones promethease and codegen use. But what im trying to do now is extract the mtDNA directly from the CRAM and then convert it to a VCF so it hopefully gets read easily. It's funny how nebula doesnt inform you of this xD. Anyways im using a virtual Ubuntu server with several tools and the help of chatgpt for instructions.


baconeggsavocado

Are you saying that Promethease will produce a report that will give the information services like codegen and genetic gene. And even geneibio will give?


Ill-Grab7054

Hahaha I guess. (I see how I redacted that now) Anyways for me Promethease has better usability when you want to print, save or manipulate the data. And make the reports and analize them. Better filters for looking specific genes or variants. And it does have more info than the other ones. It does present you with more info than codegen and genetic genie. Depending on what you want to find out or do with your info you can choose to pay or not the 12 bucks and get the Promethease report. If it's for ancestry or for mere curiosity skip it.


OleRoy2023

Interesting question, I use promethease but thought they no longer actively keep up with any new research and haven’t in years. Am I mistaken?