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Fig. 2 | Genome Medicine

Fig. 2

From: A variant by any name: quantifying annotation discordance across tools and clinical databases

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”

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