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  • Booth: 504

enGenome provides innovative software technoogy and bioinformatics services for the interpretation of sequencing data in clinical and research settings.

"We are passionate about delivering the most accurate genomic interpretation and bringing hope to patients with rare genetic diseases"

enGenome's flagship variant interpretation software eVai is a CE IVD platform developed to support geneticists in interpreting genomic variants with accuracy and speed. eVai:

  • classifies variants according to ACMG guidelines
  • classifies Copy Number Variants (CNVs)
  • prioritizes variants by pathogenicity
  • performs family analysis up to 7 family members
  • filters on the basis of phenotypes (HPO)
  • is CE IVD certified and GDPR compliant

enGenome's bioinformatic services include:

  • DNA-Seq pipelines for Germline and Somatic data
  • RNA-Seq pipelines for transcriptomic data
  • Custom projects

Schedule a meeting with us to know more!

Brands: eVai (the expert variant interpreter) DIVAs (the digenic variant interpreter - R&D) enGenome Germline and Somatic Pipelines RNA-Seq Pipeline

 Press Releases

  • enGenome is pleased to announce that they are currently seeking collaborations for their digenic variant interpretation beta-testing project, DIVAs.

    The project kicked off at this year's ESHG with the formal announcement of requests for collaborators. Following the success of the first phase of their project in Europe they are now opening the request of collaborations to participants of this year's ASHG conference.

    DIVAs takes as input patient's variants in VCF format and the phenotypes associated with the patient as HPO terms. Considering information at variant, gene, gene-gene interaction and phenotype level, DIVAs gives as output the list of digenic variant combinations classified as pathogenic.

    enGenome invites interested parties to watch the CoLab Session during ASHG21 where enGenome's Chief Science Officer Dr. Susanna Zucca will explain how it works and present some clinical cases.

    If you have samples containing suspected digenic variants and would like them evaluated by enGenome's DIVAs algorithm, please contact Dr. Susanna Zucca at


  • eVai
    eVai (the expert variant interpreter) is the enGenome cloud-based solution, developed to speed up germline variant interpretation and increase the diagnostic yield....

  • Highlights:

    • Accuracy and Speed of Variant Interpretation
    • Increased Efficiency and Standardization
    • Build and Curation of Private Repository
    • Exceptional User Experience


    • WGS, WES and Gene Panels
    • Inherited Disorders
    • Germline Cancer
    • Carrier Screening

    Key Features:

    • ACMG Automatic Classification
    • Disease Based Variant Prioritization
    • Family Analysis (Up to 7 family members)
    • Phenotype Filtering (HPO terms)

    Within a few clicks it is possible to start an analysis and identify the most relevant set of variant-disease associations per sample. 

    eVai assigns a pathogenicity score to every variant, including VUS, allowing geneticists to focus on most promising uncertain variants. Through our benchmarking analysis conducted on more than 14,000 clinically observed variants, eVai demonstrated to reach 97.3% in sensitivity and 97.8% in specificity.

    eVai automatically applies ACMG guidelines through its AI algorithm, extracts relevant evidences from Lab-curated Knowledgebase and pre-classifies variants according to their pathogenicity. 

    Request the free trial!

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