Dave Lawrence

This has been implemented for VCF, which is probably the main one Given how long this issue was open for - we should probably raise a separate issue for each...

Here's some example ranges from ClinVar | ClinVar Variation ID | SV type | g.HGVS | c.HGVS | | -------- | -------- | -------- | -------- | | [11692](https://www.ncbi.nlm.nih.gov/clinvar/variation/11692/) |...

Ha ha, don't be sorry! Please someone else do the work!

There is an active pull request for this issue

Same issue as [#218 which is now fixed](https://github.com/biocommons/uta/issues/218) which is now fixeed

This is a dupe of #517 closing this one as there is more info and conversation there

These currently fail validation: ``` validate(hp.parse_hgvs_variant('NM_004260.3:n.2338insC')) HGVSInvalidVariantError: insertion length must be 1 ``` ``` validate(hp.parse_hgvs_variant("NM_001637.3:c.1582_1583G>A")) HGVSInvalidVariantError: NM_001637.3:c.1582_1583G>A: Variant reference (G) does not agree with reference sequence (GG) ``` Are we...

Hi @reece - I have made a start on the UTA REST service https://github.com/SACGF/uta_rest It's super minimal - it runs SQL on the UTA server and then caches the API...

The Illumina blog link above is broken. The current page to list v2 changes is here: https://support.illumina.com/sequencing/sequencing_software/bcl-convert/compatibility.html?langsel=/us/

I think master being broken for GRCh38 needs to be added to the README on the front page GRCh38 is the latest human reference and should be considered the default