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85 Open 252 Closed
85 Open 252 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
6
Update if possible the alignments for RYBP
#656 opened Nov 20, 2024 by Peter-J-Freeman
@Peter-J-Freeman @John-F-Wagstaff
9
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
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
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
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
Revisit development of code to handle less common syntaxes
#556 opened Dec 8, 2023 by Peter-J-Freeman
7
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
136
NG_053115.1:g.4659_4750delinsT causes server error
#531 opened Aug 17, 2023 by leicray
1
Change logs (release notes)
#527 opened Aug 14, 2023 by leicray
5
Variant causing server error
#518 opened Aug 10, 2023 by Peter-J-Freeman
11
gene2transcripts API: Gene Panel Functionality
#516 opened Jul 14, 2023 by Sophiaj93
4
gene2transcripts API: Genome Assembly Filter
#515 opened Jul 13, 2023 by Sophiaj93
11
Combining allelic variants prior to generating the protein-level description
#511 opened Jun 27, 2023 by leicray
22
ProTip! Exclude everything labeled bug with -label:bug.