hgvs 1.5.0 released

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Reece Hart

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Mar 17, 2020, 2:41:55 PM3/17/20

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hgvs 1.5.0 was just released. See the changelog for details.

The major feature added in this release is optional support for transcript variation beyond the bounds of the transcript (hgvs#437). It is disabled by default.

To be clear, describing variants on non-existent sequence segments is strongly discouraged. (This might be the only feature for which I actually discourage its use!)

The primary use case for this feature is to import transcript variants that were reported (incorrectly) on extrapolated transcript sequences. Thanks to Invitae for sponsoring this work.

Related news: Andreas Prlić (Invitae) and I are working on the long-awaited updates to seqrepo and UTA, and additional work to streamline and automate the construction of both. Stay tuned!