Targeted Enrichment

Related: NGS Library Preparation · Whole-Genome Sequencing · Metagenomic NGS · Multiplex PCR

1. Principle

Targeted enrichment concentrates sequences of interest before or during NGS — via hybrid-capture probes or multiplex amplicons — so scarce pathogen genomes can be recovered from host-dominated specimens.

2. Step-by-Step Procedure (conceptual)

Hybrid capture

  1. Make shotgun library from extract.
  2. Hybridize to biotinylated probes (viral panels, AMR panels, bacterial bait sets).
  3. Pull down with streptavidin beads → wash → amplify → sequence.

Amplicon enrichment

  1. Multiplex PCR tiles the target genome (e.g., SARS-CoV-2 ARTIC-style).
  2. Pool amplicons → adapters → sequence.

3. Interpretation

  • Great on-target rate for known pathogens; blind to off-panel organisms.
  • Escape mutations under primer/probe sites → dropout (coverage holes).
  • Still needs bioinformatics QC and reference mapping.

4. Clinical Use Cases

  • Viral whole-genome surveillance from swabs.
  • Resistome panels from mixed samples.
  • Culture-negative infections when a candidate pathogen class is suspected.

5. Comparison with Other Methods

MethodScopeSensitivity for known targets
Targeted enrichmentPanel onlyHigh
Metagenomic NGSBroadLower without depletion
Multiplex PCRSmall panelHighest speed

6. Mnemonic / Visual Aid

Fish with bait (capture) vs photocopy known chapters (amplicons).

Active Recall

  1. Hybrid capture vs amplicon — which better tolerates primer-site mutations?
  2. Why can enriched SARS-CoV-2 genomes show amplicon dropouts?
  3. When choose mNGS over enrichment?