This directory contains code to compare genome-to-transcript mapping
between the hgvs package and Mutalyzer's position converter.

As of August 2014, there is >99.9 concordance between the two tools
for 129,556 genomic variants in 57 ACMG must report genes. Mapping of
these genomic variants generated 263,351 transcript variant pairs, one
from each tool and with identical accessions. Of these, 263,170
matched exactly or substantively (discarding formatting
differences). 58 genomic variants generated 181 transcript variant
pairs that didn't match; all occur in transcripts that have
genome-transcript indels.

Source data files and results are available in
https://bitbucket.org/biocommons/hgvs/downloads.

