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Copy Number & Structural Variant Analysis in Clinical Data | CNV, SV, Fusions, Validation

NTHRYS >> Services >> Academic Services >> Training Programs >> Bioinformatics Training >> Clinical & Translational Bioinformatics / Precision Medicine >> Copy Number & Structural Variant Analysis in Clinical Data | CNV, SV, Fusions, Validation

Copy Number & Structural Variant Analysis in Clinical Data — Hands-on

Develop validated pipelines for detecting copy number variants (CNVs) , structural variants (SVs) , and fusions in clinical datasets. Learn assay design impacts, normalization strategies for panels/exomes, signal QC and thresholds, interpretation, and orthogonal confirmation to meet clinical quality requirements.

Copy Number & Structural Variant Analysis in Clinical Data
Help Desk · WhatsApp
Session 1
Fee: Rs 14720
CNV Fundamentals & Assay Design
  • Signals & metrics
    • read depth & log2 ratios B-allele frequency segmentation basics
  • Assay & sample effects
    • panel vs exome vs WGS FFPE artifacts tumor purity/ploidy
  • QC thresholds & controls
    • coverage, SNR reference panels batch effects
Session 2
Fee: Rs 18920
Panel/Exome CNV Calling & Normalization
  • Normalization strategies & tools
    • CNVkit / ExomeDepth panel-of-normals GC/target corrections
  • Curation of exon-level calls
    • low-complexity regions segment QC/filters haplo/dup thresholds
  • Germline & somatic contexts
    • tumor-normal vs tumor-only clonality/ploidy notes reporting ranges
Session 3
Fee: Rs 23120
SV & Fusion Detection (DNA/RNA)
  • Evidence types & callers
    • split-reads & discordant pairs Manta / GRIDSS RNA fusions overview
  • Filtering & confirmation
    • breakpoint QC artefact blacklists orthogonal strategy
  • Clinical contexts
    • actionable fusions copy-neutral LOH complex rearrangements
Session 4
Fee: Rs 28720
Validation, Interpretation & Reporting
  • Analytical validation & LoD
    • precision/accuracy reportable range stability studies
  • Orthogonal confirmation
    • MLPA / ddPCR FISH / karyotype Sanger for breakpoints
  • Interpretation & report writing
    • gene/region impact tiering & clinical notes limitations & SOPs


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