RESEARCH PROBLEM

How can candidate variants be organised and inspected before qualified expert review?

Combine format validation, evidence-oriented annotation, filtering and locus-level genome inspection while preserving an explicit research-only boundary.

WHY THIS IS DIFFICULT

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VCF records are difficult to prioritise in isolation

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Reference build and annotation versions are often unclear

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Visual evidence and database assertions may become disconnected

RESPONSIBLE APPROACH

Validate VCF and reference-build consistency

Organise candidates using versioned evidence context

Inspect selected loci alongside supported genomic tracks

RELEVANT FORNEUS RESEARCH

Working demonstration

Clinical Variant Annotator

A research-oriented interface for filtering and reviewing human VCF records with evidence context.

View evidence and screenshots ↗Working demonstration

Interactive Genome Browser

Web-native inspection of genomic tracks and candidate loci using IGV.js.

View evidence and screenshots ↗

INTERPRETATION BOUNDARY

No diagnostic or treatment conclusion is produced
Current authoritative sources and qualified review remain mandatory

QUESTIONS THIS PAGE ANSWERS

VCF research annotation
browser genomic variant inspection
research variant evidence workflow