[PMID:26513549] [Nature Methods]

TransVar: a multilevel variant annotator for precision genomics

It looks like a pretty promising variant annotator. I would like to give it a try someday.  It has both web interface and stand-alone versions. “to perform three main functions supporting diverse reference genomes and transcript databases: (i) forward annotation, which annotates all potential effects of a genomic variant on mRNAs and proteins; (ii) reverse annotation, which traces an mRNA or protein variant to all potential genomic origins; and (iii) equivalence annotation, which, for a given protein variant, searches for alternative protein variants that have an identical genomic origin but are represented on the basis of different isoforms.”


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