Originally posted by sdvie
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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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mutation detection but has to exclude known polymorphism?
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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by seqadmin
Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...-
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