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robinandeer
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puzzle
Variant caller GUI + genetic disease analysis
https://robinandeer.gitbooks.io/puzzle/content/
MIT License
22
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7
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SNPedia link
#183
henrikstranneheim
closed
8 years ago
0
Docs
#182
henrikstranneheim
closed
8 years ago
1
Alignment view just like in scout
#181
henrikstranneheim
opened
8 years ago
0
Language
#180
henrikstranneheim
closed
8 years ago
3
CLI additional information
#179
henrikstranneheim
opened
8 years ago
0
Guess mode and variant type
#178
moonso
closed
8 years ago
6
Document basic functions
#177
moonso
closed
8 years ago
1
base implementation of comments
#176
robinandeer
closed
8 years ago
7
Range query
#175
robinandeer
closed
8 years ago
0
Try cyvcf
#174
moonso
closed
8 years ago
4
Test utils ped
#173
moonso
closed
8 years ago
1
Use cyvcf2 to parse VCF:s
#172
moonso
closed
8 years ago
11
Notify if HPO not found or repeated
#171
guillermo-carrasco
closed
8 years ago
5
Auto enable filters and columns based on vcf header
#170
dnil
opened
8 years ago
5
Rebase filter fixes
#169
dnil
closed
8 years ago
5
Filter fixes: enable SV len filter and max_freq setting on VCF.
#168
dnil
closed
8 years ago
4
Access gemini's --gt-filter for custom queries in gemini adapter?
#167
vasiliosz
opened
8 years ago
5
Docs
#166
guillermo-carrasco
closed
8 years ago
1
Update README.md
#165
dnil
closed
8 years ago
2
Binding gene list to multiple cases fails in GUI
#164
dnil
opened
8 years ago
1
Use max AF - max of variant.frequency - for variants display.
#163
dnil
closed
8 years ago
1
Keep an alias/location file for common annotation program profiles
#162
dnil
opened
8 years ago
1
Documentation + logo
#161
robinandeer
opened
8 years ago
4
Puzzle croaks on SV vcf files with integer OCC fields.
#160
dnil
closed
8 years ago
1
Refactor sql
#159
robinandeer
closed
8 years ago
5
Handle lack of Phenomizer auth credentials
#158
guillermo-carrasco
closed
8 years ago
1
Default to empty string if there is no GEMINI query
#157
guillermo-carrasco
closed
8 years ago
1
Possibility to VIEW multiple VCFs/GEMINI DBs at once
#156
guillermo-carrasco
closed
8 years ago
8
pyyaml in requirements
#155
dnil
closed
8 years ago
1
Can run user defined gemini queries. fix #153
#154
moonso
closed
8 years ago
4
Allow custom gemini queries
#153
moonso
closed
8 years ago
0
Fix gemini variant
#152
moonso
closed
8 years ago
2
Add link to HPO search service
#151
moonso
closed
8 years ago
0
Error when displaying a gemini variant
#150
moonso
closed
8 years ago
0
Load more does not work for vcf adapter
#149
moonso
closed
8 years ago
0
Use puzzle config
#148
moonso
closed
8 years ago
1
Utilities updates
#147
robinandeer
closed
8 years ago
2
Store custom gemini queries
#146
moonso
closed
8 years ago
1
Add individual
#145
moonso
closed
8 years ago
1
All adapters do not have individual function
#144
moonso
closed
8 years ago
0
Column reordering and selection
#143
guillermo-carrasco
closed
8 years ago
3
Implement Apache Spark+ADAM backend
#142
heuermh
closed
8 years ago
2
Refractor vcf
#141
moonso
closed
8 years ago
16
VCF adapter Refractor and testing
#140
moonso
closed
8 years ago
0
Create a VCF with sv:s for testing
#139
moonso
closed
8 years ago
5
Add a gemini database with SV:s for testing
#138
moonso
closed
8 years ago
0
Improve filtering ui
#137
vasiliosz
opened
8 years ago
7
Server improvements
#136
robinandeer
closed
8 years ago
3
CADD and 1000G filter does not seem to work
#135
henrikstranneheim
closed
8 years ago
0
Refractor and tests for gemini adapter
#134
moonso
closed
8 years ago
10
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