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31 Open 20 Closed
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Issues list

New endpoint to extract CPG ID - GUID mappings
#249 opened Oct 20, 2024 by EddieLF
Flag when seqr chosen transcript is different to the MANE select transcript
#197 opened Jan 5, 2024 by SamBryen
@cassimons
Various links to external sites not working bug Something isn't working
#196 opened Jan 3, 2024 by SamBryen
@cassimons @illusional
Iranome and Geno2MP links don't work bug Something isn't working
#177 opened Mar 6, 2023 by SamBryen
Search across two different families for variants in both families enhancement New feature or request
#163 opened Nov 4, 2022 by SamBryen
VEP version used for production seqr bug Something isn't working
#159 opened Sep 27, 2022 by cassimons
5
Downloaded results use internal sample identifiers, not pedigree identifiers bug Something isn't working
#154 opened Sep 5, 2022 by mathob
4
Enabling CRAM downloads for RD collaborators
#150 opened Jul 5, 2022 by cassimons
@illusional
1
Cram without provided reference causes undetected failure bug Something isn't working
#149 opened Jun 27, 2022 by illusional
@lgruen @illusional
Heterozygous variants now have GQ of ≤50 bug Something isn't working
#148 opened Jun 22, 2022 by SamBryen
Database version of annotation
#135 opened May 5, 2022 by illusional
API Endpoint: Add custom annotations programmatically AIP
#134 opened Apr 21, 2022 by MattWellie
API Endpoint: Retrieve tagged variants in a project AIP
#133 opened Apr 21, 2022 by MattWellie
API Endpoint: External to Internal Sample IDs AIP
#132 opened Apr 21, 2022 by MattWellie
fix OMIM details on gene page bug Something isn't working
#126 opened Mar 11, 2022 by mathob
some gene info fields not populated bug Something isn't working
#125 opened Mar 11, 2022 by mathob
Some variant tags refer to CMG bug Something isn't working
#124 opened Mar 10, 2022 by mathob
Seqr loading wizard
#117 opened Feb 24, 2022 by illusional
1 of 4 tasks
Calling Mitochondrial variants in the loading pipeline
#116 opened Feb 23, 2022 by illusional
5 tasks
Structural viewer in Seqr enhancement New feature or request
#114 opened Feb 23, 2022 by illusional
3 tasks
Exomes in Seqr enhancement New feature or request
#113 opened Feb 23, 2022 by illusional
5 tasks
Structural variants in seqr enhancement New feature or request
#112 opened Feb 23, 2022 by illusional
5 tasks
Seqr Cost Recovery enhancement New feature or request
#111 opened Feb 15, 2022 by illusional
@vladsavelyev @violetbrina @illusional
4
IGV Desktop integration enhancement New feature or request
#110 opened Feb 13, 2022 by illusional
1
AnVIL workspace import abstraction enhancement New feature or request
#93 opened Oct 12, 2021 by daniaki
2
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