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monarch-initiative
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phenopacket-store
Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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Nbas
#147
pnrobinson
closed
1 day ago
0
Error in ppkt
#146
leokim-l
closed
1 day ago
3
Fix documentation generation
#145
ielis
closed
6 days ago
0
Split data and code
#144
ielis
closed
1 week ago
0
POGZ
#143
pnrobinson
closed
6 days ago
1
TBX1
#142
pnrobinson
opened
2 weeks ago
0
Regenerate *LAMB2* and do not ignore phenopacket folders
#141
ielis
closed
1 week ago
0
Report sex distributions
#140
ielis
closed
2 weeks ago
0
Include running stats notebook into release
#139
ielis
closed
2 weeks ago
0
Cylc1
#138
pnrobinson
closed
2 weeks ago
0
Report phenotypic feature statistics on the individual level
#137
ielis
closed
3 weeks ago
0
Phenopacket store package requires Python 3.12 or better
#136
ielis
closed
3 weeks ago
0
Split CI and Q/C into separate workflows
#135
ielis
closed
3 weeks ago
0
Split CI and Q/C into separate workflows to enable running CI on multiple Python versions
#134
ielis
closed
3 weeks ago
0
Path' object has no attribute 'suffix'
#133
pnrobinson
closed
3 weeks ago
1
Enhance pre-release Q/C
#132
ielis
opened
3 weeks ago
0
Update stats for the manuscript
#131
ielis
closed
4 weeks ago
0
Update Contributing docs section
#130
ielis
closed
4 weeks ago
0
Add release checklist
#129
ielis
closed
4 weeks ago
0
Update documentation
#128
ielis
closed
4 weeks ago
0
Fix out links from docs collections section
#127
ielis
closed
4 weeks ago
0
Fix out links from docs collections section
#126
ielis
closed
4 weeks ago
0
Streamline generation of the markdown report.
#125
ielis
closed
4 weeks ago
0
Explore age of onset on features
#124
ielis
closed
1 month ago
1
Fix bug in Q/C pipeline
#123
ielis
closed
1 month ago
0
Possible duplicate patient in **COL6A1** and **COL6A3** cohorts
#122
ielis
closed
1 month ago
2
Add Q/C on the level of the entire store
#121
ielis
closed
1 month ago
1
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
#120
pnrobinson
closed
3 weeks ago
1
add version name to the zip/gzip files we use for the releases.
#119
pnrobinson
closed
4 weeks ago
1
PLA2G6
#118
pnrobinson
opened
1 month ago
0
ASPM
#117
pnrobinson
closed
1 month ago
1
NPHS1
#116
pnrobinson
closed
1 month ago
1
DNM2
#115
pnrobinson
closed
1 month ago
1
CHSY1
#114
pnrobinson
closed
1 month ago
1
DHCR24
#113
pnrobinson
closed
1 month ago
1
ASPM
#112
pnrobinson
closed
1 month ago
1
NPHS1
#111
pnrobinson
closed
1 month ago
1
DNM2
#110
pnrobinson
closed
1 month ago
1
AGRN
#109
pnrobinson
closed
1 month ago
1
DHCR24
#108
pnrobinson
closed
1 month ago
1
NRL
#107
pnrobinson
closed
1 month ago
1
B3GALT6
#106
pnrobinson
closed
1 month ago
1
TRMT10C
#105
pnrobinson
closed
1 month ago
1
NIPBL
#104
pnrobinson
closed
1 month ago
1
EP300
#103
pnrobinson
closed
1 month ago
1
BRPF1
#102
pnrobinson
closed
1 month ago
1
PSMD12
#101
pnrobinson
closed
1 month ago
1
HERC2
#100
pnrobinson
closed
1 month ago
1
Add a top-level folder to distribution archives
#99
ielis
closed
1 month ago
0
Changed all vcfRecord.pos entries from strings to ints
#98
cmungall
closed
2 months ago
1
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