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Discuss a study

HUMAN GENOMICS INTELLIGENCE · EVALUATION PILOT

From a variant to a decision others can review

Explore two public cases, run the analysis, and leave a review grounded in its evidence. We invite feedback on the coherence of the journey, its relevance, and its innovation potential.

DEMO · PUBLIC OR SYNTHETIC DATA · NOT FOR CLINICAL USE

The hypothesis we want to test

Bringing together genomic context, population context, explanation, and provenance may support a clearer and more reproducible review. The pilot evaluates that hypothesis and captures the evidence needed for the next decision.

Enter the pilot with my account

Use your existing Nexalel credentials. Each workspace maintains its own runs and reviews. Keep patient data and confidential information outside feedback.

A path for questioning the product

  1. Overview identifies the case, its scope, and the available sources.
  2. Variants filters candidates and compares evidence dimensions.
  3. Genome examines coverage, BAF, relative depth, and structural context.
  4. Reads inspects trio alignments and regional metrics.
  5. Population compares frequencies and explores a PCA that preserves observed overlap.
  6. Why separates transparent ranking from predictions and phenotype hypotheses.
  7. Review saves a justified proposal and exports its package. Another authorized identity approves it.
What this demonstration means

GIAB and 1000 Genomes provide public data. The analysis uses prepared annotations and fixed versions, with coverage measured in a research BED. HPO hypotheses are synthetic, the PCA provides genetic-structure context, and missing values appear as unavailable. Candidate variants remain review inputs.

Evaluate this journey

Your feedback is stored in your organization, separate from variant decisions, together with the reviewed run and catalogue.

  • Journey coherence
  • Importance to your work
  • Differentiation potential

What would you change, and what evidence would help you take the next step?

SOURCE · public GIAB and 1000 Genomes cases · METHOD · versioned analysis and human review · CONFIDENCE · utility under evaluation · USE · non-clinical research evaluation

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