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From: Karen E. <kei...@ge...> - 2007-04-09 22:23:52
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Hi Marcela Sorry for the delay in getting back to you. I was travelling for the past week or so. CNP/ CNV In SO we have separated the kind of variation, form the effect that it has. So there is a classification of the consequences of mutation which can be used to further describe the actual site of the variation that you would annotate in sequence. For example, 'mutation_affecting_gene_structure' and 'mutation_causes_exon_loss' Would it make sense to you to annotate the region as "sequence_variant' and further clarify this with an attribute such as 'mutation_affecting_copy_number'? There is no term in SO or SOFA for inversion breakpoint. We can add it. --Karen On Apr 4, 2007, at 1:34 PM, Marcela K. Tello-Ruiz wrote: > Hi Richard, > > Very sorry, just realized my first message wasn't very clear... > > In addition to a SOFA term for CNV/CNP, I was also asking if there > is an > appropriate term for "inversion breakpoint" (as described in Feuk > et al. > 2005 or Tuzun et al. 2005). I would not urge you to add one, just > thought about it while going over some large chromosomal > rearrangements. > > Btw, thanks for your input, agree with you that > chromosomal_structural_element would not be correct. > > Marcela > > > ---------------------------------------------------------------------- > --- > Take Surveys. Earn Cash. Influence the Future of IT > Join SourceForge.net's Techsay panel and you'll get the chance to > share your > opinions on IT & business topics through brief surveys-and earn cash > http://www.techsay.com/default.php? > page=join.php&p=sourceforge&CID=DEVDEV > _______________________________________________ > SOng-devel mailing list > SOn...@li... > https://lists.sourceforge.net/lists/listinfo/song-devel |