monarch-initiative/phenopacket-store

Issues

• Cohorts with some errors in gpsea-cs

  #158 opened 13 days ago by pnrobinson
  2

• CYP21A2

  #156 opened 3 months ago by pnrobinson
  0

• might want to consider adding link/citation for the paper

  #159 opened 16 days ago by jxchong
  1

• Enhance pre-release Q/C

  #132 opened 18 days ago by ielis
  1

• Identical ref and alt alleles in PMID_35190816_STX_23708187_T23289.json

  #155 opened 18 days ago by yaseminbridges
  1

• Some weird unicode chars in phenopacket ids

  #157 opened 3 months ago by leokim-l
  1

• Possible issue with reference range in CYP21A2

  #152 opened 3 months ago by ielis
  1

• PLA2G6

  #118 opened 3 months ago by pnrobinson
  1

• Intellectual developmental disorder, curation

  #154 opened 3 months ago by pnrobinson
  0

• FBN2 additional cases

  #153 opened 3 months ago by pnrobinson
  0

• Create a stable download URL and link to it in the documentation

  #95 opened 4 months ago by cmungall
  8

• MCM3AP

  #151 opened 4 months ago by pnrobinson
  0

• Griscelli disease

  #149 opened 4 months ago by pnrobinson
  0

• Error in ppkt

  #146 opened 4 months ago by leokim-l
  5

• Add pipeline for ingesting from Molecular Case Studies (MCS) papers

  #85 opened 4 months ago by cmungall
  4

• POGZ

  #143 opened 4 months ago by pnrobinson
  1

• TBX1

  #142 opened 5 months ago by pnrobinson
  0

• Path' object has no attribute 'suffix'

  #133 opened 5 months ago by pnrobinson
  1

• Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

  #120 opened 5 months ago by pnrobinson
  1

• Dead links in documentation for contributors

  #83 opened 5 months ago by hansenp
  1

• add version name to the zip/gzip files we use for the releases.

  #119 opened 5 months ago by pnrobinson
  1

• Fix out links from docs collections section

  #126 opened 5 months ago by ielis
  0

• Possible duplicate patient in **COL6A1** and **COL6A3** cohorts

  #122 opened 5 months ago by ielis
  2

• HERC2

  #100 opened 6 months ago by pnrobinson
  1

• ASPM

  #112 opened 6 months ago by pnrobinson
  1

• Add my ORCID to FTH1

  #92 opened 6 months ago by leokim-l
  1

• AGRN

  #109 opened 6 months ago by pnrobinson
  1

• NPHS1

  #111 opened 6 months ago by pnrobinson
  1

• TRMT10C

  #105 opened 6 months ago by pnrobinson
  1

• PSMD12

  #101 opened 6 months ago by pnrobinson
  1

• NIPBL

  #104 opened 6 months ago by pnrobinson
  1

• NRL

  #107 opened 6 months ago by pnrobinson
  1

• BRPF1

  #102 opened 6 months ago by pnrobinson
  1

• EP300

  #103 opened 6 months ago by pnrobinson
  1

• Update the phenopackets in LIRICAL so that each phenopacket is revised and gets added to the appropriate gene folder

  #88 opened 6 months ago by pnrobinson
  2

• DNM2

  #110 opened 6 months ago by pnrobinson
  1

• recalculate stats

  #94 opened 6 months ago by pnrobinson
  1

• B3GALT6

  #106 opened 6 months ago by pnrobinson
  1

• DHCR24

  #108 opened 6 months ago by pnrobinson
  1

• DHCR24

  #113 opened 6 months ago by pnrobinson
  1

• CHSY1

  #114 opened 6 months ago by pnrobinson
  1

• DNM2

  #115 opened 6 months ago by pnrobinson
  1

• ASPM

  #117 opened 6 months ago by pnrobinson
  1

• NPHS1

  #116 opened 6 months ago by pnrobinson
  1

• tarballs should unpack into a phenopackets folder

  #96 opened 6 months ago by cmungall
  0

• all values for pos in vcfRecord are strings

  #97 opened 7 months ago by cmungall
  8

• all_phenopackets does not currently show Structural variants.

  #93 opened 7 months ago by pnrobinson
  0

• Phenopacket duplicates

  #86 opened 8 months ago by yaseminbridges
  3

• phenopacket stats

  #91 opened 8 months ago by pnrobinson
  1

• DOCK11

  #79 opened 10 months ago by pnrobinson
  0