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. 2014 Oct 2;6(10):74. doi: 10.1186/s13073-014-0074-6

Table 3.

Functional comparison of VariantDB with publicly available alternatives

KggSeq VariantMaster BIERapp AnsNGS WEP FamANN PriVar EVA Annotate-it VariantDB
Citation [59] [60] [61] [62] [32] [23] [30] [31] [29]
Data management
  Online - - + + + - - + + +
  Collaborative projects - - - - + - - + + +
  Inter-sample relationsa + + + - + + + + + +
Gene annotations
  RefSeq annotations + + + + + + + + + +
  Ensembl annotations - + + - - + - - + +
   In silico gene panels - - + - - - + - + +
Population frequencies
  Public (ESP, 1KG, dbSNP) + + + - + + + + + +
  In-house samplesb + - - - - - - - - +
Pathogenicity predictions
  dbNSFP(c) + - + - + + + - + +
  CADD - - - - - - - - - +
  PROVEAN - - - - - - - - - +
Clincal
  Disease information source GSEA - ClinVar MIM - - HuGe - MIM ClinVar
System implementation
  Annotation updatesd A M A . . M M M A A
  Retrospective updates - - - - . - - - - +
  Upstream integratione - - - - + + - - - +
  Alignment visualization - - + - + - - - - +

aRelations might be either specified at sample level or provided as pedigree files upon runtime. bUser-accessible sample genotypes are used to calculate a private set of MAFs. cBoth full and partial dbNSFP annotations are considered here. dA, automatic; M, manual annotation updates; or not specified (period). eDirect integration with genotyping tools or modules.