Michael Baudis
Michael Baudis
@julesjacobsen Correct - my original comment led then a to a more general drift... We're using in parallel 1x NCIt neoplasm 2x ICD-O, and [recode ICD-O Topo to UBERON](https://github.com/progenetix/icdot2uberon). So,...
Our main, condensed summary suggestion for a rapid solution was: * provide a wrapper for files, to make it extensible * document the use for your preferred file formats and...
@pnrobinson Would look o.k. to me, but I would then add example(s) for the files you see as most likely. Options not in hts would be e.g .gff3 or .bed...
+1 from my side.
@ahwagner @larrybabb Absolute in favour. We do not need to have a "sequence we do not know the exact composition of" as intermediary. So the example I used w/ @ahwagner...
So this is an example call for the Progenetix Beacon, for 1x CNV and 1x SNV / Allele examples: Some wrappers in the response; look for `variation`. Comments appreciated!
@bheale Be careful with this: just saying a region is repeated based on microarray ... uses "repeated" which assumes _in-situ_. In reality, CNVs may hang around anywhere in the genome,...
That also relates to some discussions of the prototype also being used for (integer...) positions. IMO overall disentangling needed.
@larrybabb Apologies for the brevity there - I agree with limit the comparator options for integer based number systems to =. My problem is that this is used for positions...