Genomics & transcriptomics
WGS & WES Variant Analysis
We take whole-genome, whole-exome or targeted-panel data from FASTQ to annotated, prioritised variants using established best-practice workflows, and explain the evidence behind each candidate.
Who it is for
- Research groups studying genetic disease or population variation
- Plant and animal genomics projects
- Microbial and viral genome projects
What you send us
- FASTQ, BAM or CRAMShort-read whole-genome, exome or panel data.
- VCF filesFor annotation and prioritisation-only projects.
- Pedigree and metadataFamily structure, phenotypes or tumour–normal pairing where relevant.
What you receive
- QC and coverage report
- Filtered and annotated VCF files
- Prioritised candidate table with the evidence for each
- IGV screenshots for key variants
- Methods section and reproducible workflow
Methodology
How the work runs
Each step is agreed with you and documented. Typical tools: BWA · SAMtools · GATK · bcftools · DeepVariant · VEP · SnpEff · IGV · nf-core/sarek
- ScopingOrganism, reference build, germline or somatic design, capture kit and the questions you need answered.
- Alignment and QCBWA-MEM alignment, duplicate marking, coverage, insert-size, sex and contamination checks.
- Variant callingGATK best-practice or bcftools calling; joint genotyping for cohorts; somatic calling for tumour–normal pairs.
- AnnotationVEP or SnpEff annotation with population frequencies (gnomAD) and clinical databases (ClinVar).
- Prioritisation and reportFiltering to candidates under the inheritance model or hypothesis you specify, each reviewed at read level in IGV.
Quality controls
Checks applied to every project
- Coverage uniformity and on-target rate for capture data
- Sex check and relatedness against the stated pedigree
- Contamination estimate per sample
- Transition/transversion ratio and other call-set metrics compared with expected ranges
Scope and limits
What the work can and cannot show
- Short-read data cannot resolve every structural variant or repeat expansion; we state which variant classes were assessed.
- Research use only: results are not a clinical or diagnostic report.
- Clinical interpretation requires an accredited laboratory.
Free quote
Start a WGS project.
Describe your data and questions. We reply with questions or a written quote.
It depends on the data type, the number of samples and the depth of interpretation you need. Every project receives a written quote with scope, deliverables, price and delivery date after a short exchange about your data and questions. The quote is free and carries no obligation.
No. Results are for research use only and are not a medical diagnosis. Clinical decisions require testing in an accredited laboratory.
Data are used only for your project, transferred through a channel you approve and deleted at the end of the engagement on request. We will sign your institution’s confidentiality agreement before any data are shared.
Yes. You receive a methods section with software versions and parameters, and every figure can be regenerated from the delivered code. Authorship or acknowledgement follows your field’s norms and is agreed at the start.
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