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Sequencing-by-Synthesis (SBS) Technology Explained Study Guide

This guide provides a comprehensive overview of Sequencing-by-Synthesis (SBS), the core technology behind Illumina's DNA sequencing platforms. It covers the essential steps involved, from preparing DNA fragments through bridge amplification to the cyclical process of nucleotide incorporation, imaging, and cleavage using reversible terminators. Understanding SBS is fundamental to grasping the advancements in modern genomics, enabling high-throughput and accurate DNA sequencing for various applica

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NGS Fundamentals

Library Preparation & Enrichment

Learn how genomic DNA is fragmented, ligated with adapters, and enriched using targeted panels for clinical applications.

Sequencing-by-Synthesis (SBS)

Understand the Illumina paradigm, including cluster generation via bridge amplification and the use of reversible terminator nucleotides.

  • Sequencing-by-Synthesis
  • Illumina sequencing
  • Bridge amplification
  • Cluster generation
  • Reversible terminators
  • DNA sequencing
  • Genomics
  • Flow cell
  • Oligonucleotides
  • Hybridization
  • Polymerase
  • Fluorescently labeled nucleotides
  • 3' terminator group
  • Imaging
  • Cleavage
  • De-blocking
  • High-throughput sequencing
  • Accuracy
  • Signal amplification
  • Base calling

Bioinformatic Analysis Pipelines

Master the computational flow from raw FASTQ files and Phred scores to alignment, variant calling, and clinical annotation.

AML Molecular Pathophysiology

AML Driver Mutations

Identify key mutations in signaling (FLT3), transcription (NPM1), epigenetics (IDH1/2), and tumor suppression (TP53) and their clinical impact.

Clonal Evolution & Dynamics

Understand how founder mutations, clonal expansion, and subclonal diversification drive disease progression and resistance.

Clinical NGS Applications

Learn how NGS is used to monitor Minimal Residual Disease (MRD), map resistance, and differentiate AML from MDS.

Risk Stratification & ELN Guidelines

Learn how NGS findings are integrated into ELN 2022 frameworks to categorize AML into Favorable, Intermediate, and Adverse risk groups for clinical management.

Clonal Architecture & VAF

Precision Medicine & Targeted Therapy

Explore how specific mutation detection (e.g., FLT3, IDH1/2) directly informs the selection of targeted inhibitors and transplant decisions.

Molecular MRD Monitoring

Learn how NGS-based methods (DNA/RNA) provide superior sensitivity compared to morphology and flow cytometry for detecting residual leukemic cells and predicting relapse.

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