AI-powered secondary and tertiary analysis tailored to Long Reads

Unlock AI-driven insights for variant detection, prioritization, and interpretation at Individual, Family, and Cohort level in one solution.

Analysis of
100% DNA

The mutations in both coding and non-coding regions of the DNA are analyzed and scored based on their potential pathogenicity for comprehensive insights.

This ensures all the information acquired through DNA sequencing is fully extracted.

Fast large-scale cohort analysis

Analyze thousands of genes across hundreds of samples in just seconds, streamlining the process of identifying causative pathogenic mutations.

This speed enables quick diagnostics, delivering results efficiently without compromising accuracy or scalability.

Smarter Variant Prioritization

Our analysis integrates phased compound heterozygosity across all variant types, combined with Challenging Medically Relevant Genes (CMRG) to ensure nothing clinically significant is overlooked. The result: a more accurate, streamlined path to identifying pathogenic variants — so you spend less time searching and more time acting.

All variants
coverage

Detect the entire spectrum of mutations including SNVs, InDels, Repeat Expansions, and SVs.

This ensures full coverage of all variants, capturing critical information from the sequencing data.

Multi-omics integration including DMRs

Differentially Methylated Regions are the first layer of information of multi-omics, in addition to epigenetic modifications and 3D genome interactions.

This approach supports the identification of mutations in genomes, offering deeper insights into genetic variations.

Integrated visualizations for hypothesis generation

Gain deeper insights into mutation effects with integrated visual tools.

  • Automated IGV-like visualizations of sequencing data across index patients, related and control individuals.

  • A clear regulome overview for streamlined analysis.

Prioritization for faster diagnosis

Using an advanced scoring system based on epigenetic data and our disease-agnostic AI model, we provide fast and reliable variant prioritization, accelerating the path to an accurate diagnosis.

Improved communication through Collab

Users can share and discuss findings using our Collab feature, thereby easily streamlining the collaboration between team members.

Native to Long Reads but Technology-agnostic

Compatible with all major sequencing technologies — Short Read, Long Read, Whole Exome, and Whole Genome — our platform processes and combines data across families, and cohorts to guide you toward accurate, confident diagnoses.

  • Short-reads

    e.g. Illumina

  • Long Reads

    e.g. PacBio

  • Linked-reads

    e.g TELL-Seq

  • Optical mapping

    e.g. Bionano

Genetic analysis across
data types

Analyzes data from panels to genomes, providing a manageable, prioritized list of suggested causative pathogenic mutations.

  • Whole genomes

  • Gene panels

  • Exomes

  • RNA-seq

  • Hi-C

  • ChIP-seq

  • Methylation

Inputs ✓VCF, FastQ or BAM
GDPR compliance ✓Yes
Hosting service ✓AWS
Genome scope ✓Coding & non-coding
Analysis level ✓Individual, family & cohort
Technology scope ✓Short- & long-reads
Technology integrative solution ✓WES & WGS
Variant scope ✓Germline: SNV, SV & tandem repeat
AI-Detection ✓Yes
AI-Interpretation ✓Yes
Multi-omics integration ✓RNA-seq, WGBS, Epigenetics & Hi-C
Methylation ✓Yes
Visualizations ✓IGV, Circos, Genome overviews, TADs
Collaboration/ Variant sharing ✓Yes
Variant Enrichment/Burden Test ✓Yes