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. 2017 Jan 26;9:7. doi: 10.1186/s13073-016-0396-7

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© The Author(s). 2017

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — Methodology of HGVS syntax comparison. To compare two HGVS expressions in our dataset, we applied the following assessments. a The query transcript must match the reference transcript. If the accession or version does not match, the variant is not assessed. b If the syntax for both expressions correspond as-is, the match is “exact”. c If the syntax for both expressions are equivalent, the match is “equivalent”. If the syntax is not an alternative expression of the other HGVS variant, the match is “incorrect”