monarch-initiative phenopacket-store issues

monarch-initiative / 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

16 stars 4 forks source link

issues

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Some weird unicode chars in phenopacket ids

#157 leokim-l opened 1 month ago
1
CYP21A2

#156 pnrobinson opened 1 month ago
0
Identical ref and alt alleles in PMID_35190816_STX_23708187_T23289.json

#155 yaseminbridges opened 2 months ago
0
Intellectual developmental disorder, curation

#154 pnrobinson opened 2 months ago
0
FBN2 additional cases

#153 pnrobinson opened 2 months ago
0
Possible issue with reference range in CYP21A2

#152 ielis closed 2 months ago
1
MCM3AP

#151 pnrobinson opened 2 months ago
0
IKZF1

#150 pnrobinson closed 2 months ago
1
Griscelli disease

#149 pnrobinson opened 2 months ago
0
CYP21A2,measurement

#148 pnrobinson closed 2 months ago
4
Nbas

#147 pnrobinson closed 3 months ago
0
Error in ppkt

#146 leokim-l closed 3 months ago
5
Fix documentation generation

#145 ielis closed 3 months ago
0
Split data and code

#144 ielis closed 3 months ago
0
POGZ

#143 pnrobinson closed 3 months ago
1
TBX1

#142 pnrobinson opened 3 months ago
0
Regenerate *LAMB2* and do not ignore phenopacket folders

#141 ielis closed 3 months ago
0
Report sex distributions

#140 ielis closed 3 months ago
0
Include running stats notebook into release

#139 ielis closed 3 months ago
0
Cylc1

#138 pnrobinson closed 3 months ago
0
Report phenotypic feature statistics on the individual level

#137 ielis closed 3 months ago
0
Phenopacket store package requires Python 3.12 or better

#136 ielis closed 3 months ago
0
Split CI and Q/C into separate workflows

#135 ielis closed 3 months ago
0
Split CI and Q/C into separate workflows to enable running CI on multiple Python versions

#134 ielis closed 3 months ago
0
Path' object has no attribute 'suffix'

#133 pnrobinson closed 3 months ago
1
Enhance pre-release Q/C

#132 ielis opened 3 months ago
0
Update stats for the manuscript

#131 ielis closed 4 months ago
0
Update Contributing docs section

#130 ielis closed 4 months ago
0
Add release checklist

#129 ielis closed 4 months ago
0
Update documentation

#128 ielis closed 4 months ago
0
Fix out links from docs collections section

#127 ielis closed 4 months ago
0
Fix out links from docs collections section

#126 ielis closed 4 months ago
0
Streamline generation of the markdown report.

#125 ielis closed 4 months ago
0
Explore age of onset on features

#124 ielis closed 4 months ago
1
Fix bug in Q/C pipeline

#123 ielis closed 4 months ago
0
Possible duplicate patient in **COL6A1** and **COL6A3** cohorts

#122 ielis closed 4 months ago
2
Add Q/C on the level of the entire store

#121 ielis closed 4 months ago
1
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

#120 pnrobinson closed 3 months ago
1
add version name to the zip/gzip files we use for the releases.

#119 pnrobinson closed 4 months ago
1
PLA2G6

#118 pnrobinson closed 2 months ago
1
ASPM

#117 pnrobinson closed 4 months ago
1
NPHS1

#116 pnrobinson closed 4 months ago
1
DNM2

#115 pnrobinson closed 4 months ago
1
CHSY1

#114 pnrobinson closed 4 months ago
1
DHCR24

#113 pnrobinson closed 4 months ago
1
ASPM

#112 pnrobinson closed 4 months ago
1
NPHS1

#111 pnrobinson closed 4 months ago
1
DNM2

#110 pnrobinson closed 4 months ago
1
AGRN

#109 pnrobinson closed 4 months ago
1
DHCR24

#108 pnrobinson closed 4 months ago
1