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Clinical Transcriptomics & Expression Signatures | RNA-seq, DE, Fusions & Reporting

NTHRYS >> Services >> Academic Services >> Training Programs >> Bioinformatics Training >> Clinical & Translational Bioinformatics / Precision Medicine >> Clinical Transcriptomics & Expression Signatures | RNA-seq, DE, Fusions & Reporting

Clinical Transcriptomics & Expression Signatures — Hands-on

Deliver clinically meaningful insights from transcriptome data. This module covers RNA library designs, alignment/quasi-mapping, quality control, normalization, differential expression, fusion/isoform/splicing detection, and clinically validated expression signatures. You will build reproducible, report-ready analyses aligned to clinical governance and audits.

Clinical Transcriptomics & Expression Signatures
Help Desk · WhatsApp
Session 1
Fee: Rs 18320
RNA-seq Foundations & QC
  • Assays & library design
    • polyA / rRNA-depletion strandedness & UMIs FFPE considerations
  • Mapping & quantification
    • STAR / HISAT2 Salmon / Kallisto gene vs transcript counts
  • QC & batch exploration
    • RIN/coverage/uniformity PCA/UMAP & outliers confounders/logs
Session 2
Fee: Rs 22520
Normalization, DE & Signatures
  • Normalization & modeling
    • TPM/CPM/TMM/RLE DESeq2 / edgeR / limma-voom covariates & batch (Combat)
  • Differential expression & enrichment
    • FDR control GSEA/GSVA pathways (KEGG/Reactome/GO)
  • Expression signatures (clinical)
    • multigene scores (e.g., PAM50) risk models & calibration cutoffs & reference sets
Session 3
Fee: Rs 26720
Fusions, Isoforms & Splicing
  • Fusion detection (RNA)
    • STAR-Fusion / Arriba filters & artefacts clinical relevance
  • Isoforms & alternative splicing
    • tx-level quant DEXSeq/DRIMSeq (overview) annot vs novel junctions
  • Panels & FFPE considerations
    • targeted expression panels degradation & biases orthogonal checks
Session 4
Fee: Rs 32320
Reporting, Validation & Governance
  • Templates, cutoffs & references
    • signature scores & CI report language limitations & LOQ
  • Validation & QA
    • precision/accuracy batch stability change control
  • EHR/FHIR & governance
    • FHIR Observations provenance & audits reanalysis cadence


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