[ensembl-dev] VEP e!90 HGVS del/dup bases removed?

Luke Goodsell l.goodsell at achillestx.com
Mon Dec 11 13:18:28 GMT 2017


We’ve noticed since upgrading from e!88 to e!90 that the deleted/duplicated bases are no longer being reported in HGVS strings. Is there a way to include them?

Out of curiosity, why were they removed? It was my understanding that they are not required by the HGVS spec, but that they can be optionally included. We use them downstream as a way to double-check the variant annotation.

Kind regards,
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