Clinical RNA-Seq — Fusion Calling & Expression Signatures — Hands-on

Learn how to use RNA-Seq in clinical workflows for oncology and rare disease. This module walks through clinical RNA-Seq design, QC, alignment and quantification, and then focuses on fusion calling, splice events and expression signatures that feed into reports, tumor boards and precision medicine discussions.

Clinical RNA-Seq — Fusion Calling & Expression Signatures

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Session Index

Session 1 — Clinical RNA-Seq Use Cases & Study Designs Session 2 — Alignment, Quantification & Expression QC Session 3 — Fusion Calling, Splice Events & Signatures Session 4 — Mini Capstone: Fusion + Signature Case Snapshot

Session 1

Fee: Rs 8800

Clinical RNA-Seq Use Cases & Study Designs

Where RNA-Seq fits in clinical genomics

oncology fusions and signatures rare disease transcript support expression based biomarkers

Study designs and sample types for clinical RNA-Seq

FFPE vs fresh tissue tumor purity constraints paired DNA + RNA designs

Library prep, strandedness and sequencing choices

polyA vs ribodepletion stranded protocols read length and depth targets

Session 2

Fee: Rs 11800

Alignment, Quantification & Expression QC

RNA-Seq alignment choices and reference models

splice aware aligners overview genome vs transcriptome alignment reference annotation impact

Expression quantification and normalisation basics

counts and TPM like measures batch and technical effects per sample QC dashboards

Clinical QC considerations for RNA-Seq data

read distribution and coverage contamination and mix ups minimum thresholds for reporting

Session 3

Fee: Rs 14800

Fusion Calling, Splice Events & Signatures

Fusion calling concepts and artefacts

split and spanning reads read through and technical artefacts filtering and QC for fusions

Splice junctions, isoforms and outlier expression

alternative splicing overview transcript level changes outlier gene expression views

Expression signatures and clinical markers

pre defined oncology signatures (high level) gene sets and pathways snapshot limitations and validation mindset

Session 4

Fee: Rs 18800

Mini Capstone: Fusion + Signature Case Snapshot

Work through an anonymised RNA-Seq oncology style case

Theory + Practical

Prepare a fusion and expression summary table

validated fusions key expression outliers supporting QC notes

Draft a report friendly narrative for tumor boards

fusion description and relevance signature interpretation caveats follow up assay suggestions

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Clinical RNA-Seq — Fusion Calling & Expression Signatures Training | Clinical Fusions & Expression Analytics

Clinical RNA-Seq — Fusion Calling & Expression Signatures — Hands-on