Clinical NGS bioinformatics and variant interpretation
Software that turns raw sequencer output into a report of which mutations matter and which drugs they point to.
Secondary analysis (alignment, variant calling: Illumina DRAGEN, Sentieon, GATK) and tertiary interpretation (Sophia Genetics DDM, QIAGEN QCI Interpret, PierianDx, Velsera/Seven Bridges, Genoox, Congenica) automate clinical reporting against knowledgebases such as OncoKB, CIViC, ClinVar, and COSMIC. Consistency of variant classification (AMP/ASCO/CAP tiers) across labs and the maintenance of curated knowledge are the quality issues; FDA has recognised OncoKB as a source for level-of-evidence claims.
How it works
Pipelines call and annotate variants, apply tumour-normal or panel-of-normals filtering, and match variants to curated evidence tiers to draft clinician reports.
- Standardises interpretation
- Rapid turnaround
- Links to trials
- Knowledgebase currency and disagreement
- Complex variants (fusions, CNVs, MSI/TMB) need tuned pipelines
- LDT and software-as-medical-device regulation evolving
Latest papers
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