Services

What we can run
for you

Three practices that share one lab, one set of pipelines and one standard of evidence. Most projects use more than one of them.

Analysis

NGS & bioinformatics

Sequencing data, analysed properly. We run established pipelines 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 genome

Short-read WGS from FASTQ or BAM through alignment, variant calling, annotation and structural variant detection.

Whole exome

Exome capture data with coverage assessment across the target regions, so you know what was and was not actually read.

RNA-seq

Differential expression, splicing and fusion detection, with the normalisation and model choices written down rather than assumed.

Targeted panels

Gene panels for a defined question, 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 genome, transcriptome and other layers where the biology — not the fashion — calls for it.

Custom pipelines

Reproducible workflows built for your data, handed over with the code and configuration so you are not locked to us.

Discuss an analysis

Testing

Clinical & diagnostic testing

Testing that ends in a report a clinician can act on: what was tested, what was found, what it means, and what the test could not rule out.

Carrier screening for recessive conditions and family planning
Pharmacogenomics — how a patient is likely to metabolise a drug
Clinical exome and genome interpretation against current evidence
Variant reclassification when the literature moves
Reports written to be read by a clinician, not decoded by one

Research

R&D and consulting

Work that starts before the sequencer does. Study design, biomarker and target work, and a second opinion when an analysis you already have does not sit right.

Study design

Sample size, controls, batching and platform choice, decided before money is spent on sequencing.

Biomarker discovery

Candidate identification and the validation plan that has to follow it for the result to mean anything.

Target support

Genetic evidence for and against a target, including the evidence that argues the other way.

Method development

New assays and pipelines, benchmarked against something before they are trusted.

Second opinion

An independent look at an existing analysis, with a written account of what we would have done differently.

Rather run it yourself?

Analysis software you can license

23rdExon, CAN and MetaXplore are 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.

See the software

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.