monarch-initiative/HpoCaseAnnotator

Issues

• Cannot add disease for newer OMIM id's

  #115 opened a year ago by pnrobinson
  1

• donald missing

  #114 opened a year ago by pnrobinson
  1

• Allow storing variant mosaicism

  #112 opened a year ago by ielis
  1

• Jannovar

  #111 opened 2 years ago by pnrobinson
  0

• Unable to export current case

  #110 opened 2 years ago by pnrobinson
  0

• Unable to save data using a couple of fields

  #86 opened 3 years ago by jagcsun
  2

• Use Phenopackets `v2.0.0`

  #85 opened 3 years ago by ielis
  0

• Update phenopacket version

  #64 opened 3 years ago by pnrobinson
  5

• Allow clinvar allele id instead of snippet

  #82 opened 4 years ago by pnrobinson
  1

• Allow storing length for INS

  #75 opened 4 years ago by ielis
  1

• Check all SV data is exported into phenopacket

  #76 opened 4 years ago by ielis
  1

• Liftover - MalformedURLException

  #81 opened 4 years ago by pnrobinson
  2

• Fix retrieval of Pubmed data

  #77 opened 4 years ago by pnrobinson
  1

• DiseaseCaseDataControllerTest.addMinimalRequiredInformation:98

  #68 opened 5 years ago by pnrobinson
  1

• error of reading a file

  #73 opened 5 years ago by lingluodlut
  3

• Exception in thread "JavaFX Application Thread" java.lang.StringIndexOutOfBoundsException: String index out of range: -20

  #70 opened 5 years ago by pnrobinson
  3

• Only use ASCII characters in the names suggested for saving files.

  #69 opened 5 years ago by pnrobinson
  2

• 3UTR|protein-binding|disrupted

  #66 opened 5 years ago by pnrobinson
  1

• Update the documentation

  #65 opened 5 years ago by pnrobinson
  0

• epigenetic silencing

  #63 opened 5 years ago by pnrobinson
  1

• String index out of range: -7

  #62 opened 5 years ago by pnrobinson
  6

• phenopacket id missing

  #59 opened 5 years ago by pnrobinson
  1

• Malformed export of author name

  #61 opened 5 years ago by pnrobinson
  1

• Unusual PubMed string not parsable.

  #52 opened 5 years ago by pnrobinson
  2

• Disease database

  #50 opened 5 years ago by pnrobinson
  1

• Is the genome assembly getting output in the wrong place?

  #57 opened 5 years ago by pnrobinson
  1

• +

  #55 opened 5 years ago by pnrobinson
  2

• Get accession # doesn't do anything except get accession

  #44 opened 5 years ago by LCCarmody
  1

• Set OMIM as default database

  #54 opened 5 years ago by pnrobinson
  1

• Upgrade to phenopackets 1.0RC

  #56 opened 5 years ago by pnrobinson
  1

• Updating list of diseases

  #53 opened 5 years ago by pnrobinson
  1

• Output file name

  #51 opened 5 years ago by pnrobinson
  1

• Phenopacket export

  #42 opened 5 years ago by ielis
  2

• Text mining not returning hits.

  #49 opened 5 years ago by pnrobinson
  1

• Text mining not working in release Hpo Case Annotator v1.0.11

  #43 opened 5 years ago by LCCarmody
  2

• Add ability to specify onset of symptoms in HPO list.

  #46 opened 5 years ago by pnrobinson
  1

• FamilyInfo

  #48 opened 5 years ago by pnrobinson
  4

• Resource files management

  #47 opened 5 years ago by ielis
  1

• Update in PhenoPacketCodec

  #45 opened 5 years ago by pnrobinson
  1

• Make hg37 the default build

  #40 opened 5 years ago by pnrobinson
  2

• Exception in thread "JavaFX Application Thread" java.lang.StringIndexOutOfBoundsException: String index out of range: -5

  #34 opened 5 years ago by pnrobinson
  3

• Add version number to accession

  #39 opened 5 years ago by pnrobinson
  1

• HPO text-mining terms do not identify "Not" or "No" for terms

  #35 opened 6 years ago by LCCarmody
  2

• read the docs

  #25 opened 6 years ago by pnrobinson
  1

• automatically remove space from disease id entry

  #33 opened 6 years ago by pnrobinson
  1

• Add genome build to VariantValidator transcript URL

  #31 opened 6 years ago by pnrobinson
  1

• GuiElementValues and chromosome

  #27 opened 6 years ago by pnrobinson
  2

• Error when removing variant using the tool

  #28 opened 6 years ago by LCCarmody
  2

• hostservices wrapper

  #29 opened 6 years ago by pnrobinson
  2

• Variant Validator chromosome issue

  #26 opened 6 years ago by pnrobinson
  1