I'm not sure what you're asking. Genetic mutations are a possible cause of disease, but so are many other things. Nothing can be assumed.how likely is it that minor deviations in those 0.5% make us crawl through this world?
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I'm not sure what you're asking. Genetic mutations are a possible cause of disease, but so are many other things. Nothing can be assumed.how likely is it that minor deviations in those 0.5% make us crawl through this world?
Basically the new version can label genes, pull out and/or flag rarer SNP alleles, flag missense mutations, flag known pathogenic SNPs, and calculate BLOSUM62 scores (4 to -4, with 4 being no difference and -4 being the most drastic) to help to predict if a missense mutation is pathogenic.]
Nope. And it sounds like the SourceForge problem went away shortly after that article was published, based on the update at the bottom.Is the program available on another site?
Nope. And it sounds like the SourceForge problem went away shortly after that article was published, based on the update at the bottom.
No, on the bottom of the article you cited above.You mean the update on the bottom of the SourceForge landing page?
Yes ... but there are ways to search through the haystacks more efficiently. Mythbusters had a fun episode on thatCorrect me if im wrong, finding information related to my disease is like finding a needle in haystack pretty much?
Even if it's not a strictly genetic disease, there could still be a genetic susceptibility. For example, there are missense mutations in the genes involved in innate immunity which can result in reacting poorly to a few specific infections. But unless/until someone with one of those mutations runs into one of those infections, everything is going to be pretty normal.And if my symptoms are from an infection or something i wasn't born with, this information wont be in the data at all?
Yes. Currently I'm working on getting the 23andMe files for Analyze My Genes to include more of the rare SNPs (some were omitted from earlier versions due to being difficult), but after that my next project is to attempt something similar for at least the exome, maybe the genome depending on how huge the data files get.When the data is ready, could you teach me what i can do myself to find anything useful from this?
The files are zipped, so I can't tell what the file extensions are The interesting ones should be in .vcf format, but the visible exome.vcf file is too small to contain much data.My results are now ready, not sure which one of these i should upload for you tho?
Sounds good, for me it doesn't matter if your software can read the results now or in 3 months as long as it works.
I don't know if you are aware of my history but basically i will take this "medicine" which cured me 10 years ago (Accutane) again and before i start with this i will do a bunch of tests because i obviously cant search for my disease through tests during this time (which will take 2 years). Will that be the same with WES or my gene information wont be affected when i take this?
If it wont be affected i can do WES anytime during these 2 years and it will be the same results anyway?
Im also wondering if its possible to look at specific genes with your software?
The files are zipped, so I can't tell what the file extensions are The interesting ones should be in .vcf format, but the visible exome.vcf file is too small to contain much data.
Based on the naming, the "post" files probably all go with the "post.bam" file. .bam is basically the raw string of alleles.
So the more useful ones are probably "exome.vcf" and the files after it are probably .vcf files too, but broken into smaller parts so the files aren't too large to be copied or downloaded. So I'd like to see the "exome.vcf" file and at least the first two following it, so we can get a version of the Analyze My Genes program working with the specific formatting and multiple files.
I'll send you a PM (conversation) with my contact info.