zwdzwd / transvar

TransVar - multiway annotator for precision medicine
Other
118 stars 33 forks source link

what's the difference between gDNA and left_align_gDNA #8

Closed die4live closed 8 years ago

die4live commented 8 years ago

From canno results, I noticed that mostly the gDNA position in region column is different from the 'left_align_gDNA' in info. But I didn't find more information about this.

And furthermore, there are 'unaligned_gDNA'. These concepts confuse a newbie in Bioinformatics like me, and would you please provide some definition or reference?

Thanks!

zwdzwd commented 8 years ago

tag like left_align_gDNA and unaligned_gDNA only appear in the deletion and insertion annotation. They are informative since indels represented in different alignment conventions are equivalent. See for example http://genome.sph.umich.edu/wiki/Variant_Normalization the left alignment section. I have fleshed out the doc a bit to mirror the use of these tags.

Thanks,