So, I have data from an exome sequencing. I also have the SNP calls from Bioscope. My question is how to check if the IUPAC codes from the variants (with Chr & Pos) changes the translation? In other words, is the exome variant functionally important as a missense/nonsense. Is there a simple way to check just one variant? Is there a way to check 1000's of variants?
Thank you. I will check them all.
BTW: first link leads to sitedown ! :P
yes, it seems down, the original paper is here: http://www.ncbi.nlm.nih.gov/pubmed/12824425
How about doing the opposite, going from a amino acid position on a protein to a genomic coordinate? is there some tool that can do that?