Sequencing Technologies

One-Sentence Definition

Sequencing technologies are the instrument platforms that convert DNA/RNA molecules into readable base sequences, differing mainly in read length, per-base accuracy, throughput, and cost.

Simple Explanation

Short-read machines give very accurate small pieces; long-read machines give long pieces that span repeats. Microbial genomics often wants both.

Detailed Scientific Explanation

Platform classRead lengthAccuracyStrengthWeakness
Illumina (SBS, short-read)~100–300 bpVery high per baseCheap, high depth, SNP callingRepeats/plasmids unresolved
Oxford Nanopore (ONT)kb–MbImproved but lower rawPortable, real-time, longHomopolymer/systematic errors
PacBio HiFi~10–25 kbHigh (consensus)Complete genomesCost, instrument access
Sanger~700–900 bpGold for single ampliconsConfirmation, 16SNot genome-scale

Hybrid assembly (Illumina + ONT/PacBio) is the classic route to closed bacterial chromosomes and complete plasmids.

Mechanism

  • Illumina: bridge amplification + reversible terminators, imaged cycle by cycle
  • ONT: current change as DNA passes through a protein nanopore → basecalling model (itself a neural network)
  • PacBio: circular consensus of repeated passes over the same molecule

Clinical Importance

  • Turnaround and portability matter for outbreak response (ONT in field settings)
  • Complete plasmid reconstruction changes AMR epidemiology conclusions

Research Importance

  • Direct RNA sequencing (ONT), methylation detection, structural variants

Diagnostic Relevance

AMR Relevance

  • Short reads may detect a carbapenemase gene but not its Plasmid context — long reads resolve mobility

Active Recall Questions

  1. Why does plasmid epidemiology often need long reads?
  2. Which platform is most portable for field outbreak work?
  3. What is hybrid assembly?

Connections