Core Bioinformatics work is documented in depth in our Publications library, organized under the Bioinformatics and Genomics clusters.
SERVICE // BIOINFORMATICS
Core Bioinformatics
Core Bioinformatics is the foundation of our work: turning raw sequencing output into results a scientist or clinician can actually act on. We process FASTQ, BAM, and VCF files through documented, version-controlled pipelines, and every result ships with the parameters and reference data used to produce it.
THE PROBLEM
Raw sequencing data is not an answer. Between a FASTQ file and a defensible scientific conclusion sits alignment, quality control, variant calling, annotation, and, most often skipped by generic services, a second, human review of what the numbers actually mean. Labs frequently have the sequencing capacity but not the standing computational team to close that gap on every project.
OUR APPROACH
We run your data through a pipeline appropriate to the question being asked, not a one-size-fits-all default, and pair every automated result with a scientific review pass before it reaches you. You receive the processed data, a plain-language summary of what was found, and the exact pipeline configuration used, so the work is reproducible by your own team if needed.
PROCESS
- 01
Intake & QC
Raw data quality assessment before any analysis begins. We flag problems in the source data rather than silently working around them.
- 02
Pipeline selection
Alignment, variant calling, or expression quantification approach chosen to fit the biological question, reference genome, and downstream use.
- 03
Automated processing
Pipeline execution with every tool version, parameter, and reference dataset version logged.
- 04
Scientific review
A second, independent read of the results for biological plausibility and correct interpretation before delivery.
- 05
Delivery & walkthrough
Annotated results, a written summary, and, on request, a short call to walk through what the findings do and do not support.
Frequently Asked Questions
Do you provide clinical diagnoses?+
No. We provide computational analysis and interpretation support for research and pre-clinical use. Any deliverable touching patient-impacting decisions is explicitly scoped with your institution's own clinical and ethical oversight as the responsible party.
What file formats do you accept?+
FASTQ, BAM/CRAM, VCF, and most standard genomic formats. If your data is in a less common format, tell us during scoping and we'll confirm compatibility before starting.
Can we see the pipeline before you run it on our data?+
Yes. We share the intended pipeline and parameters during scoping, before any billable work begins, so there are no surprises in the final report.