Knowledge Bases & Curation Workflows (CIViC, ClinGen, OncoKB) — Hands-on

Create audit-ready clinical variant knowledge that powers reporting and CDS. This hands-on module covers the end-to-end curation lifecycle—literature scouting, data extraction, variant normalization and mapping, evidence grading across CIViC/ClinGen/OncoKB, conflict resolution, QA/metrics, versioning and change logs—with automated pipelines and interoperable exports (APIs/FHIR) .

Knowledge Bases & Curation Workflows (CIViC, ClinGen, OncoKB)

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Session Index Category 5 · Clinical & Translational Bioinformatics

Session 1 — Foundations & Schemas Session 2 — Evidence Curation Workflow Session 3 — Automation, QA & Dashboards Session 4 — Versioning, APIs & Publishing

Session 1

Fee: Rs 24320

Foundations & Schemas

Variant representation & mapping

HGVS/RefSeq/Ensembl GA4GH VRS (overview) transcript alignment pitfalls

Schemas & ontologies

diseases/phenotypes (MONDO/HPO) drugs/targets (RxNorm/ChEMBL) evidence models

Knowledge base landscape

CIViC/ClinGen/OncoKB roles ClinVar crosswalks actionability frameworks

Session 2

Fee: Rs 28520

Evidence Curation Workflow

Scouting & triage

alerts & watchlists trial registries priority rules

Extraction & grading

effect sizes & endpoints levels of evidence conflict logging

Curation tools & SOPs

CIViC submissions/moderation ClinGen playbooks OncoKB annotations

Session 3

Fee: Rs 32720

Automation, QA & Dashboards

Pipelines & normalization

VEP/ANN & MyVariant.info reference liftover VRS harmonization (overview)

Quality metrics & review

inter-annotator agreement evidence freshness SLAs QC dashboards

Traceability & audit

provenance & links review states & sign-off CAPA hooks

Session 4

Fee: Rs 38320

Versioning, APIs & Publishing

Change management & releases

changelogs & semver model cards backfills & retractions

Distribution & integration

REST/GraphQL APIs bulk exports (CSV/JSON) FHIR Genomics bundles

Governance & sustainability

roles & permissions community contributions roadmaps & KPIs

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Knowledge Bases & Curation Workflows (CIViC, ClinGen, OncoKB) | Evidence, QA & Publishing

Knowledge Bases & Curation Workflows (CIViC, ClinGen, OncoKB) — Hands-on