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monarch-initiative
/
phenopacket-store
Collection of phenopackets
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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ASPM
#117
pnrobinson
closed
4 days ago
1
NPHS1
#116
pnrobinson
closed
5 days ago
1
DNM2
#115
pnrobinson
closed
4 days ago
1
CHSY1
#114
pnrobinson
closed
4 days ago
1
DHCR24
#113
pnrobinson
closed
4 days ago
1
ASPM
#112
pnrobinson
opened
1 week ago
0
NPHS1
#111
pnrobinson
opened
1 week ago
0
DNM2
#110
pnrobinson
closed
2 days ago
1
AGRN
#109
pnrobinson
opened
1 week ago
0
DHCR24
#108
pnrobinson
closed
4 days ago
1
NRL
#107
pnrobinson
closed
11 hours ago
1
B3GALT6
#106
pnrobinson
closed
4 days ago
1
TRMT10C
#105
pnrobinson
opened
1 week ago
0
NIPBL
#104
pnrobinson
closed
10 hours ago
1
EP300
#103
pnrobinson
closed
2 days ago
1
BRPF1
#102
pnrobinson
closed
1 day ago
1
PSMD12
#101
pnrobinson
opened
1 week ago
0
HERC2
#100
pnrobinson
opened
1 week ago
0
Add a top-level folder to distribution archives
#99
ielis
closed
5 days ago
0
Changed all vcfRecord.pos entries from strings to ints
#98
cmungall
closed
1 month ago
1
all values for pos in vcfRecord are strings
#97
cmungall
closed
1 month ago
8
tarballs should unpack into a phenopackets folder
#96
cmungall
closed
5 days ago
0
Create a stable download URL and link to it in the documentation
#95
cmungall
opened
1 month ago
3
recalculate stats
#94
pnrobinson
closed
4 days ago
1
all_phenopackets does not currently show Structural variants.
#93
pnrobinson
opened
1 month ago
0
Add my ORCID to FTH1
#92
leokim-l
opened
1 month ago
0
phenopacket stats
#91
pnrobinson
closed
2 months ago
1
Setup automated phenopacket generation on release
#90
ielis
closed
2 months ago
0
Show C2S2 validation results
#89
ielis
opened
2 months ago
1
Update the phenopackets in LIRICAL so that each phenopacket is revised and gets added to the appropriate gene folder
#88
pnrobinson
closed
2 days ago
2
Project setup
#87
ielis
closed
2 months ago
0
Phenopacket duplicates
#86
yaseminbridges
closed
2 months ago
3
Add pipeline for ingesting from Molecular Case Studies (MCS) papers
#85
cmungall
opened
3 months ago
3
Added MRAS gene for Noonan syndrome 11
#84
hansenp
closed
3 months ago
0
Dead links in documentation for contributors
#83
hansenp
opened
3 months ago
0
Use remote HPO when running the notebooks
#82
ielis
closed
2 months ago
7
TBX1 full cohort with phenopackets upload
#81
adamklocperk
closed
2 months ago
3
TBX1 full cohort upload
#80
adamklocperk
closed
4 months ago
0
DOCK11
#79
pnrobinson
opened
4 months ago
0
Importing TBX1 input data + notebook
#78
adamklocperk
closed
4 months ago
0
Created POLR1A notebook
#77
LCCarmody
closed
4 months ago
1
LMNA
#76
pnrobinson
closed
3 months ago
1
Wip/gen md table
#75
pnrobinson
closed
4 months ago
1
PMID and gene name fixes
#74
tudorgroza
closed
4 months ago
1
Wip/fixarch+tsv
#73
pnrobinson
closed
4 months ago
5
Add ext ref to LIRICAL phenopackets
#72
pnrobinson
closed
2 months ago
1
refactor: hpo_cr.initialize_simple_column_maps
#71
pnrobinson
closed
3 months ago
1
slc45a2
#70
pnrobinson
opened
5 months ago
0
PTPN11 LEOPARD
#69
pnrobinson
closed
5 months ago
1
KIA00753
#68
pnrobinson
closed
3 months ago
0
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