Recently got a project on human data. It is easy to find out all the mutations. But how do I exclude all the know Polymorphisms, any approach? Thanks!
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mutation detection but has to exclude known polymorphism?
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A common approach is to annotate your results with the information from dbSNP, 1000 Genomes, Exome Variant Server .
These databases have information on previously described SNPs and their frequency in several populations.
You can download these databases and annotate your vcf files with them using snpSift annotate.
cheers,
Sophia
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Originally posted by sdvie View PostA common approach is to annotate your results with the information from dbSNP, 1000 Genomes, Exome Variant Server .
These databases have information on previously described SNPs and their frequency in several populations.
You can download these databases and annotate your vcf files with them using snpSift annotate.
cheers,
Sophia
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