Illumina/Nirvana

Issues

• Bad help info in 3.18?

  #133 opened 7 months ago by pablosolar
  1

• Custom annotation option command not found

  #132 opened 7 months ago by pablosolar
  0

• Options documentation

  #131 opened 7 months ago by pablosolar
  2

• gnomADv4/4.1 support?

  #130 opened 7 months ago by ceftriaxoneBGD
  1

• ERROR: Index was outside the bounds of the array.

  #115 opened 8 months ago by sorgoz
  2

• Illegal Instruction - Jasix.dll or netcoredeps issue

  #128 opened 8 months ago by schreyers
  2

• RefSeq annotation GRCh37 transcripts NM not showing latest version

  #123 opened 8 months ago by danlesperance-pki
  1

• Illegal instruction: 4

  #125 opened 8 months ago by veronicatozzo
  3

• Jasix output not in bgzip format

  #127 opened 8 months ago by frahimov
  2

• How to access Jasix

  #126 opened 10 months ago by vajanishant
  1

• Downloader -- Always get truncation for same three DBs

  #124 opened a year ago by MiPSch
  1

• RefSeq Database Version

  #101 opened 2 years ago by malnirav
  21

• Loss of function sites

  #122 opened a year ago by Asppagh
  0

• SAUtils.dll custom database script failing

  #120 opened a year ago by GH-MStamboulian
  1

• The remote server returned an error: (404) Not Found.

  #121 opened a year ago by aardes
  0

• Impact not in json file

  #117 opened a year ago by oshiomah1
  4

• unable to find COSMIC annotations in the output json file

  #119 opened a year ago by GH-MStamboulian
  2

• PrimateAI preprocessor

  #118 opened a year ago by oshiomah1
  0

• Parsing nirvana outputs effective with toy VCFs but fails with real data, changes in format responsible?

  #116 opened a year ago by jessmewald
  0

• Core dump in Nirvana.dll

  #111 opened a year ago by wuttke
  2

• Add AlphaMissense to the annotation sources

  #114 opened a year ago by sorgoz
  2

• dannScore and gerpScore attributes use "," instead of "." when their value is a floating point

  #90 opened 2 years ago by algarsi3
  9

• Please update the docker image

  #113 opened a year ago by KevinDuringWork
  0

• Extract all supported transcripts

  #112 opened a year ago by danlesperance-pki
  0

• dotnet Nirvana.dll command cannot find cache files

  #102 opened 2 years ago by iamgiddyaboutgit
  2

• problem with building the omim supplementary files

  #110 opened a year ago by GhisF
  0

• create Cash files and reference files from other sources except nirvana

  #109 opened a year ago by naserelmi
  0

• Multiple entries for the same variant in custom databases

  #100 opened 2 years ago by algarsi3
  1

• Error when Building the supplementary files from ClinVar

  #108 opened a year ago by TimPoulsen
  1

• SpliceAI data missing from Supplementary Annotations

  #105 opened a year ago by kmurphy902
  1

• ERROR: Input string was not in a correct format. Windows 10

  #107 opened 2 years ago by EleniKamp
  0

• Singularity & Nirvana

  #106 opened 2 years ago by yr542
  0

• v3.19 Production build annotates wrong transcripts as canonical

  #104 opened 2 years ago by jhkbg
  0

• Wrong HGVSP annotation for some RefSeq sequences for GRCh37

  #103 opened 2 years ago by heseber
  6

• App crash if the chromosome name in -q is not present in the index

  #99 opened 2 years ago by Griffan
  1

• How to update dbsnp version?

  #98 opened 2 years ago by Griffan
  1

• Annotation of Structural Variants Unclear

  #97 opened 2 years ago by DarioS
  0

• error running nirvana " System.Runtime.InteropServices.SEHException (0x80004005): External component has thrown an exception."

  #96 opened 2 years ago by anapg11
  0

• Error in output format: the variantFrequencies field of the samples

  #95 opened 2 years ago by algarsi3
  1

• Version 3.2.x branch no genes section in JSON

  #94 opened 2 years ago by olingerc
  0

• Open reading frame in MNVs

  #88 opened 2 years ago by b-math
  3

• where is the Nirvana_UGA.tsv file

  #89 opened 2 years ago by vaksmaz
  1

• Illegal Instruction

  #87 opened 2 years ago by alfonso-lam
  3

• Looking for the within-callset AC, AN, AF for multi-sample VCF

  #86 opened 2 years ago by bw2
  1

• [Feature Request] Docker image for latest NIRVANA version

  #84 opened 2 years ago by LeeTL1220
  5

• Data for VariantStudio

  #85 opened 2 years ago by alfonso-lam
  1

• [Feature Request] Additional info during ClinVar parsing

  #83 opened 3 years ago by olingerc
  4

• variantFrequencies and alleleDepth are sometimes lost when annotating multi-sample VCF files

  #80 opened 3 years ago by heseber
  5

• 3.18.1 removes option "disable-recomposition". Not in release notes.

  #82 opened 3 years ago by olingerc
  2

• Latest release (3.18.1) does not include Downloader

  #81 opened 3 years ago by olingerc
  5