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Mitochondria - HGVS and RefSeq annotations #843

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davmlaw opened this issue Jun 28, 2023 · 0 comments
Closed

Mitochondria - HGVS and RefSeq annotations #843

davmlaw opened this issue Jun 28, 2023 · 0 comments
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@davmlaw
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davmlaw commented Jun 28, 2023 •
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Search for eg NC_012920.1:g.11038delA - this fails as MT was not in original GRCh37 contigs so cdot doesn't handle it properly. Did a deploy to vg.com as was breaking badly.

Also found Ensembl VEP doesn't do MT RefSeq - added warning, hopefully this will be fixed in upcoming VEP releases

Added MT issue on BioCommons HGVS page biocommons/hgvs#663
@davmlaw davmlaw added the HGVS label Jun 28, 2023
davmlaw added a commit that referenced this issue Jun 28, 2023
@davmlaw
#843 - biocommons mito
764d5b8
davmlaw added a commit that referenced this issue Jul 6, 2023
@davmlaw
#843 - VEP RefSeq annotation for mitochondria - add warning about VEP…
fd11657 
… issue
@davmlaw davmlaw changed the title Biocommons HGVS and mitochondria Mitochondria - HGVS and RefSeq annotations Jul 6, 2023
@davmlaw davmlaw closed this as completed Jul 6, 2023
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