Whole genome analysis
FASTQ or BAM through alignment, variant calling and annotation, with structural variant detection across the genome.
Services
Analysis run for you.
Pipelines built to keep.
Two ways we work on sequencing data: we analyse it and report back, or we build the workflow that lets your own team analyse it repeatably.
A. Bioinformatics data analysis
Sequencing data, analysed properly
We run established workflows where they fit the question and write custom ones where they do not — and we tell you which of the two you are getting.
Whole exome analysis
Capture-region analysis with coverage assessment across the targets, so you know what was and was not actually read, then variant analysis and annotation.
RNA-seq analysis
Expression and differential expression, splicing and fusion detection, with the normalisation and model choices documented rather than assumed.
Targeted panel analysis
Defined gene-panel analysis with coverage review and variant analysis, including panel design review before anything is sequenced.
Metagenomics
Shotgun and 16S/ITS sequencing: taxonomic profiling, assembly and binning, antimicrobial resistance and virulence analysis.
Multi-omics
Integration across genomic and transcriptomic datasets where the biology justifies it, rather than because the data happens to exist.
Long-read / Oxford Nanopore
Long-read variant analysis, structural variants and phasing, including targeted long-read sequencing analysis where that suits the question.
Custom bioinformatics analysis
Analysis designed around your specific dataset, experimental design and biological question when a standard workflow does not fit.
Do not see your analysis listed?
We also develop custom analyses and workflows around specific datasets, experimental designs and research questions.
Running the same analysis repeatedly? That is usually a case for end-to-end pipeline development
B. Pipeline development
End-to-end bioinformatics
pipeline development
A one-off analysis answers one question. A pipeline answers it again next month, on new data, with the same result — and it belongs to you, not to us.
- Dataformats, scale, constraints
- Workflow designsteps and decision points
- Automationreproducible execution
- Validationtested against known input
- Deployment & handovercode, config, documentation
What you get
- A workflow designed around your data and experimental design, not a generic template
- Automated execution, so a run is a command rather than a sequence of manual steps
- Transparent configuration — parameters, references and thresholds in files you can read
- Testing and validation against known input before the pipeline is trusted
- Documentation written for the person who will run it after you
- Code and configuration handed over, so the pipeline outlives the engagement
How we build them
Pipelines are assembled from established, well-understood tools wherever a suitable one exists, with custom logic written only where your question genuinely needs it. That keeps the pipeline reviewable by anyone who knows the field.
You should be able to leave us and keep your pipeline.
Rather run it yourself?
Analysis software you can license
23rdExon, CAN and MetaXplore are three independent tools we build and run. If you have the people and want to keep the work in house, you can license them and run them on your own data.
Questions
Before you get in touch
What data types can you analyse?
Whole genome, whole exome, RNA-seq, targeted panels, metagenomic shotgun and 16S/ITS, and long-read Oxford Nanopore data. We work from FASTQ or BAM, and we can start from samples where sequencing is part of the project.
Can you build a custom bioinformatics pipeline?
Yes. Pipeline development is one of our core services: a workflow designed around your data and experimental design, automated, tested and handed over with its code and configuration.
What files do you need to start?
Usually FASTQ or BAM files plus a short description of the experimental design, the reference build you expect, and what you intend to do with the result. If you are not sure what to send, ask us before you send anything.
Do you provide the underlying output files and workflow configuration?
Yes. Alongside the report you get the intermediate and final files and the pipeline configuration used to produce them, so the analysis can be re-run or handed to someone else.
Can you work with data we have already had analysed?
Yes. We are happy to take an existing analysis, review how it was produced and give a written account of what we would do differently.
Tell us what you are trying to find out.
Send the question rather than the specification. If we are not the right lab for it, we would rather say that early and point you somewhere better.