Microbiome & pathogen detection Nanopore 16S

Case study · Microbiome · Genics Pty Ltd

One lead bioinformatician, one MinION: sample to pathogen report in 2 days.

Genics depended on external providers for microbiome analysis: 8 to 20 weeks from sample receipt to a client report, on someone else's timeline. As the company's lead bioinformatician, I brought the whole chain in-house on Oxford Nanopore and owned it end to end — what now runs as Microbiome Health Analysis (MHA).

For the specialist Oxford Nanopore 16S workflow: raw signal → basecalling → mapping → variant calling → pathway analysis → statistical testing → database integration → automated client reporting. OTU and ASV approaches to absorb Nanopore's higher per-read error rate. Validated against the former provider's Illumina results.

2 days
Turnaround, from 8–20 weeks, as routine
Lead
Lead bioinformatician; built every computational stage
Nanopore
16S, OTU/ASV, pathogen calls
Jan–Aug 2026
Lead Bioinformatician, Genics

The result

The turnaround number is real, and it is routine, not a best case.

This is the same timeline, drawn to scale. The outsourced bar spans the full 8–20 week range Genics used to wait on; the in-house bar is what sample-to-report now takes, on a normal run, not a demo run.

2 days is roughly 1–4% of the old timeline — the number is not exaggerated for effect.

Sample-to-report: one pipeline, five checkpoints

  1. Sample + metadataBarcode, extraction batch, run ID and client context captured before any analysis runs.
  2. Basecall + QCYield, read length, per-barcode depth and contamination controls checked before taxonomy.
  3. Taxonomy + pathogen flagOTU/ASV taxonomic assignment plus pathogen-specific flagging, tuned for Nanopore's error profile.
  4. SQL storageEvery run, sample, taxon and flag written to a queryable, auditable database.
  5. Client reportExecutive summary, detected organisms, caveats and confidence, plus a technical appendix.
The value was never the classifier alone — it is that every stage is traceable: sample metadata, run QC, database version, thresholds and review status, not loose files on a workstation.

What a run looks like

One run, many sample types, two targets.

Run anatomy

2 to 56
barcoded samples per run
~1,500 bp
full-length 16S amplicon on a MinION
16S + ITS
bacteria (SILVA) and fungi (ITS reference), via wf-16s
2 days
receipt to report sent, as routine
WaterSoilAnimal faecesAnimal remainsBloodTissue

Run capacity and sample types only; client-specific counts and commercial figures are not disclosed.

The method

One person, the whole chain, six checkpoints.

As lead bioinformatician at Genics, I designed the workflow, coordinated lab staff (DNA extraction, enrichment, Nanopore sequencing) and IT (infrastructure), and built every computational stage myself.

Step 01

Start with run and sample metadata

Barcodes, sample type, extraction batch, run ID and client context are captured before analysis. This prevents the most common failure mode: a correct classification attached to the wrong sample or report.

Step 02

QC before interpretation

Yield, read length, per-barcode depth and contamination controls are checked before taxonomy. Bad runs fail early instead of producing polished but misleading reports.

Example command shape
nanopore-qc --run RUN_ID --barcodes samples.csv --min-reads 5000
classify-16s --reads fastq_pass/ --db curated_16s_db --out taxonomy.tsv
report-qc --taxonomy taxonomy.tsv --controls controls.yaml

Step 03

Handle Nanopore's error rate with OTU and ASV, not brute force

Nanopore's per-read error rate is higher than short-read Illumina data. Rather than fight it with coverage alone, the pipeline combines OTU clustering and ASV resolution so taxonomic and pathogen calls stay reliable at commercial turnaround.

Step 04

Persist results in SQL

Each run writes structured outputs to a database so old reports can be regenerated, audited and compared against later database versions.

Schema sketch
runs(run_id, flowcell, started_at, db_version, status)
samples(sample_id, run_id, barcode, client_ref, sample_type)
taxa(sample_id, taxon, rank, reads, relative_abundance)
flags(sample_id, flag_type, severity, review_status)

Step 05

Generate a report, not a data dump

The final artefact is shaped for non-specialists: executive summary, detected organisms, caveats, confidence and a technical appendix for review. Lab-facing dashboards give the team visibility without needing to read raw output.

Step 06

Write it down so it survives without you

SOPs, threshold definitions, failure modes and rerun instructions were written and centralised specifically because one person understood the whole chain. The workflow was designed not to depend on that being permanent.

“I was the only person in the company who understood the chain from A to Z, so I was also the one translating between the lab, IT and the client.”

Adrien Oliva · Lead Bioinformatician, Genics Pty Ltd

Validation and limits

Nanopore was checked against the old Illumina pipeline, and the two don't fully agree.

The profiles differ. They were never claimed to match.

Overall taxonomic profiles from Nanopore and from the former provider's Illumina pipeline differ — two different platforms and two different pipelines, which is expected. What was validated, and holds up, is pathogen detection: Nanopore calls are nearly as accurate as the Illumina baseline despite the platform's higher raw error rate. That distinction is deliberate; overclaiming concordance is exactly the kind of thing a commercial report cannot afford to get wrong.

Species-level calls are not always defensible

Short amplicons can fail to separate close species. The report exposes confidence and avoids overcalling rather than forcing a single species name.

Relative abundance is not absolute load

Composition shifts are meaningful, but they are not direct cell counts unless the assay includes controls designed for that purpose.

Database versioning matters

A result can change because the reference database changed, not because the biology did. Production pipelines need database provenance, not just software provenance — part of why results are stored in SQL rather than flat files.

Output

What the client receives.

Microbiome report package

pipeline handover
ReportHTML/PDF customer summaryreview-ready
Tablestaxa, flags, QC, metadatamachine-readable
Databaserun/sample/taxa schemaauditable
SOPrerun, failure modes, thresholdshandover

No client names, sample counts or commercial figures are disclosed here — only the pattern that made 2-day turnaround routine.

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