Hello list,
I already analysed some of our data with your framework and I want to thank
you for your great work. But lately I stumbled on some strange behavior - I
used the "aaChanges"-tool, as well as the Gene "BED-to-Codon"-tool with the
same Gene-BED-File and compared the results. What I did:
#example BED-file:
chr17 3763624 3794037 uc002fwt.2 0 - 3765504 3788981 0
16 1953,104,129,88,74,54,200,89,22,37,134,52,54,48,403,51,
0,5577,9156,9470,12223,13078,15892,20015,21296,22197,22711,23098,23553,24049
,24997,30362,
#example-output of "aaChanges"
chr17 3775847 3775848 C uc002fwt.2 Glu:Gly 375 T
#example-output of "BED-to-Codon"
chr17 3773172 3773175 uc002fwt.2 0 -
chr17 3773175 3773178 uc002fwt.2 0 -
chr17 3773178 3773181 uc002fwt.2 0 -
chr17 3775849 3775852 uc002fwt.2 0 -
chr17 3775852 3775855 uc002fwt.2 0 -
Comparing both results, the "BED-to-Codon" actually presents no codon at
position 3775848 - here the fist codon is starting at 3775849. But in fact,
looking at the ucsc browser, "aaChanges" is right. There are another few
examples (~5/1500 snps) and apparently most of them are positions among the
first codon in an exon.
Did anyone meet this problem before? What is my mistake?
Thank you.
Regards
Chris