zwdzwd / transvar

TransVar - multiway annotator for precision medicine
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transvar does not process hgvs expressions for inversions? #60

Open DavidTamborero opened 1 year ago

DavidTamborero commented 1 year ago

hi - in case this is checked by the developers, we are using a lot TransVar as it is such a great tool! all the praise for Wanding!

So - an issue that we recently found is that -unless we are doing something wrong- it seems that TransVar does not process inversions (ie it returns an empty result), for instance:

$ transvar ganno -i 'X:g.32386323_32386325inv' --ensembl --gseq input transcript gene strand coordinates(gDNA/cDNA/protein) region info CHROM POS REF ALT

is there a solution for that?

thanks in advance! /david