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Classify Mutations Which Are Found Ny Using Exome Sequencing

Hi, everyone. I used exome sequencing to sequence tumor and blood, and after I remove mutations in blood and snp in dbsnp131, I found I still have about 2000 mutations. I read the exome sequencing paper, many of which classify mutations to synonymous mutations，missense mutations，nonsense mutations，splice-site changes，indel. But now I only have SNV and indel, I do not know which soft could I use to classify SNV to mutations，missense mutations，nonsense mutations，splice-site changes, looking forward to your answer, Thanks.

exome sequence indel
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updated by Pierre Lindenbaum Pierre Lindenbaum • written by Liyf • Liyf

This search will get you many threads that offer different approaches to answering our problem.

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updated by Ram Ram • written by Chris Miller Chris Miller

I think SNV is not correct, it is CNV( copy number variation)and it breaks down into 2 category 1)deletion 2) duplication if based on sequencing they are short duplication or deletion for example 20 bp you can put them in deletion category as well as duplication. But if they are very long i think it is better to put them in structral abbration.

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written by Omid Omid

just SNV, or single-loci mutation.

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written by Liyf • Liyf

FYI @omid: SNV = Single Nucleotide Variant, as opposed to Single Nucleotide Polymorphism (the difference being that polymorphisms are present at some frequency in the general population)

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written by Chris Miller Chris Miller

Thanks, I agree. So I correct my question, Do you know there is any soft to classify single locus mutation?

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written by Liyf • Liyf

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