Capstone — Clinical Genomics Case Series — Hands-on

Apply concepts from the entire clinical genomics track on anonymised, teaching purpose case series. Participants will sketch intake details, outline pipelines, review variant level summaries, and prepare structured clinical style reports and board style summaries. Content is for training and awareness only and is not a substitute for professional medical, legal, regulatory or diagnostic decision making.

Capstone — Clinical Genomics Case Series

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Session Index

Session 1 — Case Intake, Phenotypes & Test Planning Session 2 — Pipeline Sketch & Variant Triage Session 3 — Interpretation, Evidence & Reporting Draft Session 4 — Mini Tumour Board & Case Series Reflection

Session 1

Fee: Rs 8800

Case Intake, Phenotypes & Test Planning

Anonymised case summaries and clinical questions

oncology and rare disease style cases core clinical background snapshot what the referrer wants to know idea

Phenotype capture and structured problem framing

HPO style phenotypes mindset key timelines and prior investigations family, ancestry and risk factors snapshot

High level test and panel selection reasoning

WES, WGS, panel and RNA choices (conceptual) germline vs somatic mindset expected yield and limitations snapshot

Session 2

Fee: Rs 11800

Pipeline Sketch & Variant Triage

From raw data to variant tables: conceptual pipeline map

alignment, calling and QC checkpoints annotation and knowledge base links idea audit trail and reproducibility snapshot

Initial triage and filtering thinking for each case

frequency, consequence and quality filters inheritance or tumour only pattern assumptions shortlist of candidate variants snapshot

Preparing a case wise triage summary grid

variants, genes and evidence columns phenotype and pathway hints flags for deeper review

Session 3

Fee: Rs 14800

Interpretation, Evidence & Reporting Draft

Variant level reasoning using ACMG AMP style ideas

pathogenicity evidence clues (conceptual) population, computational and functional hints segregation and phenotype matching snapshot

Therapeutic and management relevance thinking

actionability tiers concept guideline and trial references snapshot gaps to discuss with clinicians

Drafting a structured report skeleton for one case

indication, methods and limitations key findings and interpretations summary for non technical readers

Session 4

Fee: Rs 18800

Mini Tumour Board & Case Series Reflection

Presenting a case to a board style audience (training)

Theory + Practical

Short presentation structure and discussion prompts

clinical question and key findings options, caveats and alternatives snapshot questions for clinicians and counselors

Reflection across the case series and track

what worked well in pipelines and reporting common pitfalls and rescue strategies personal learning and next steps checklist

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Capstone — Clinical Genomics Case Series Training | End-to-End Case Workup & Reporting Practice

Capstone — Clinical Genomics Case Series — Hands-on