Bioinformatics & AI
Reproducible analysis, not a black box.
From raw reads to interpretation — variant and structural analysis, expression, imputation and multi-omics integration. Every result ships with the code, the versions and the parameters that produced it.
Analysis we run
FASTQ to answer — and you can reproduce every step
Whether you generate data with us or bring your own, our pipelines are built for reproducibility: workflow-managed, containerised, version-pinned and benchmarked against reference materials. You receive the results and the means to regenerate them.
AI is used where it genuinely helps — prioritisation, pattern-finding and reporting — and always alongside transparent, auditable methods, never instead of them.
Capabilities
What we can analyse
Variant calling
SNVs and indels from WGS, WES or panels, with annotation, filtering and quality metrics benchmarked on reference samples.
CNV & structural variants
Copy-number and structural-variant detection, with the option to combine short- and long-read evidence for resolution.
RNA-seq analysis
Quantification, differential expression, splicing and fusion detection, with clear plots and exportable tables.
Imputation & genotyping
Low-pass WGS imputation and genotype refinement against reference panels for population-scale studies.
Multi-omics integration
Joint analysis across genome, transcriptome and proteome — designed in from the start, not bolted on at the end.
Custom pipelines
Bespoke workflows for non-standard assays or organisms, built to your specification and documented for hand-over.
How we build it
Reproducibility, by default
- Workflow-managed pipelines (Nextflow) with pinned tool versions.
- Containerised environments so a run is repeatable elsewhere.
- QC aggregated and reported (e.g. MultiQC) at every stage.
- Validated against reference materials such as GIAB where applicable.
- Clear documentation written for the next analyst, not just for us.
Deliverables
What you receive
- Processed results: VCFs, count matrices, genotype tables, figures.
- A readable QC and methods report.
- Pipeline code, container references, versions and parameters.
- Intermediate files on request; everything exportable.
Questions
Bioinformatics FAQ
Can you analyse data sequenced elsewhere?
Yes. We routinely take FASTQ, BAM/CRAM or VCF from other providers and run them through our documented pipelines.
Will I be able to re-run the analysis myself?
That is the goal. With pinned versions, containers and documentation, your team — or an auditor — can reproduce the result.
How is "AI" actually used?
For prioritisation, pattern detection and drafting reports — always alongside transparent, auditable methods. We will not hand you an unexplained score.
Have data that needs analysing?
Tell us the data type, organism and the question. We will propose a pipeline, deliverables and timeline.