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93 Open 244 Closed
93 Open 244 Closed
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Issues list

vvta_2024_10 update
#658 opened Nov 27, 2024 by John-F-Wagstaff
Improve intronic variant description handling with differing Alts
#657 opened Nov 27, 2024 by John-F-Wagstaff
Update if possible the alignments for RYBP
#656 opened Nov 20, 2024 by Peter-J-Freeman
@Peter-J-Freeman @John-F-Wagstaff
8
Add VRS representations to the VV output
#655 opened Nov 8, 2024 by Peter-J-Freeman
@John-F-Wagstaff
8
Allow c. positions for intergenic variants in the context of a genomic reference sequence
#652 opened Oct 8, 2024 by ifokkema
12
Alignment issue with NM_017680.6
#651 opened Oct 1, 2024 by ifokkema
13
Variant in an interstitial undefined region fails validation
#644 opened Aug 21, 2024 by leicray
Add error codes to all warnings
#637 opened Jul 18, 2024 by Peter-J-Freeman
11
Required information for ENST00000305799.8 is missing from the Universal Transcript Archive
#629 opened Jun 24, 2024 by ifokkema
6
REST APIs broken for LOVD, depending on the internal method used to call it
#628 opened Jun 24, 2024 by ifokkema
2
An MD file which describes the HGVS formats we do and do not suppoort and what we are working on
#618 opened May 10, 2024 by Peter-J-Freeman
1
Accept a VCF line
#617 opened May 10, 2024 by Peter-J-Freeman
Use the "full" variant description for intronic variants
#616 opened May 9, 2024 by ifokkema
23
LOVD associated improvement requests and bugs area-meta Cross-cutting, high-level issues (for tracking many other implementation issues, ...).
#603 opened Apr 16, 2024 by John-F-Wagstaff
5 tasks
8
Add support for RefSeqFE and intergenic mappings to RefSeqGenes
#600 opened Apr 16, 2024 by Peter-J-Freeman
22
Transcript fusion r. description
#594 opened Mar 18, 2024 by leicray
3
Deletions in .r generate warning for auto-mapping to long form of .c (eg .r:6_8del -> .c:6_8delTTG) when the original is valid
#584 opened Feb 5, 2024 by John-F-Wagstaff
6
Position based transcript search to be added to genes to transcript endpoint
#582 opened Jan 31, 2024 by John-F-Wagstaff
gene2transcripts and gene2transcripts_v2 don't like HGNC IDs.
#578 opened Jan 23, 2024 by ifokkema
1 of 4 tasks
45
gene2transcripts_v2: cds
#565 opened Dec 18, 2023 by sophiaj16
PostgreSQL requirement
#560 opened Dec 8, 2023 by r0ue
1
Revisit development of code to handle less common syntaxes
#556 opened Dec 8, 2023 by Peter-J-Freeman
7
Numbering the Ter position in a Protein
#547 opened Nov 1, 2023 by Peter-J-Freeman
2
Internal Server Error: /accounts/confirm-email
#546 opened Oct 17, 2023 by leicray
1
Collecting recently failed variants as a list. please add
#545 opened Sep 13, 2023 by Peter-J-Freeman
131
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