GenePool Specs

To jumpstart your data analyses, GenePool comes pre-packaged with a number of useful workflows, annotations, and visualizations.  When you're ready, extend GenePool to custom-fit your needs by using our API.


  • Expression profile & comparison
  • Sequence variation profile & comparison
  • Time-to-endpoint analysis
  • Paired & Trio analysis
  • Gene enrichment analysis
  • Custom workflows developed with our API
  • Develop workflows that result in sharable reports


Interactive Visualizations

  • Fully integrated, multi-genome genome browser
  • Heat Map
  • Co-expression networks
  • Kaplan-Meier survival curves
  • Scatter plots
  • Histograms
  • Bar charts


Supported Data Types

  • Expression data in BAM format* or as tab-delimited files
    • GenePool can compute expression counts from your transcriptome sequence alignments to support RNA-Seq & miRNA-Seq analysis
    • Import any table of assay values for one or more samples to support analysis of data generated from Gene Expression Microarrays, qPCR, and Protein assays
  • Sequence Variation mutation calls in VCF format*
    • Exomes
    • Whole Genomes
    • Targeted Sequences
  • Copy Number and DNA methylation data can be imported as a table of assay values for one or more samples
  • Integrated Genome Browser supports BAM format*
  • User-defined Sample Metadata imported as tab-delimited files

*Alignments and mutation calls must be with respect to the Human Reference Genome GRCh37/hg19 or a subsequent patch release. The recently announced GRCh38 is not yet supported.


Biological Annotation Engine

  • RefSeq & HGNC Gene Model
  • Gene-to-Disease relationships
  • Disease Onotology
  • Gene Ontology
  • Reactome Pathways
  • PharmaADME
  • FDA Biomarkers
  • Druggable Genes
  • Population Frequencies (1000 Genomes Project, Exome Sequencing Project, dbSNP)
  • ACMG
  • ClinVar
  • Clinical Genomic Database
  • SNPeff Variant Effect Predictions
  • Various Gene & Hotspot Panels
  • Private/Custom Annotations


Ready to dive in?