Whole genome sequencing
WGS 30x service for research and clinical centres. DNBSEQ technology, Q30>90% and FASTQ/BAM/VCF deliverables ready for your analyses.
Service parameters
Coverage, quality and deliverables aligned with international production genomics standards.
- PlatformDNBSEQ-G400 and DNBSEQ-T7 (MGI/Complete Genomics) with DNB technology and CoolMPS chemistry.
- Mean coverage30x on human genome (scalable to 15x, 60x or higher on demand).
- Read lengthPaired-end 150 bp (PE150) standard, PE100 available.
- Output per sample>120 Gb of raw data, equivalent to >400 M reads.
- QualityQ30 > 90%, duplicate rate < 10%, controlled GC bias.
- Required inputGenomic DNA, minimum 500 ng, A260/280 ≥ 1.8, A260/230 ≥ 2.0.
- Accepted samplesEDTA K2 blood, saliva, FFPE (with adjustment), extracted DNA.
- Turnaround4–6 weeks from receipt to FASTQ delivery.
From sample to FASTQ
End-to-end process under a single contract. Quality control at every stage, full traceability and guaranteed SLA.
Extraction
Automated extraction (columns or magnetic) with QC by Qubit, NanoDrop and TapeStation.
Library
PCR-free or standard preparation according to project. Enzymatic or ultrasound fragmentation.
Sequencing
DNBSEQ-G400 or T7 with CoolMPS chemistry for low error rate and high homogeneity.
FASTQ delivery
Download via encrypted SFTP server or hard drive sent by courier. 6-month retention.
Turnkey bioinformatics
If your group lacks computing capacity or bioinformatics staff, we handle the complete analysis.
Alignment + BAM
BWA-MEM2 against GRCh38 with secondary tags, sorted and deduplicated. Ready for analysis.
Variant calling
SNVs and indels with DeepVariant or HaplotypeCaller (GATK4). CNV with CNVkit/GATK gCNV. SV with Manta/DRAGEN.
Annotation
VEP + SnpEff + ClinVar + gnomAD + OMIM + HPO. Annotated VCF ready for filtering.
Trio analysis
Filtering by segregation, de novo, autosomal recessive and X-linked. Ideal for rare diseases.
ACMG interpretation
Classification of candidate variants with explicit ACMG/AMP criteria, reviewed by geneticist.
Personalised report
Report tailored to the project objective: clinical, pharmacogenomic, population, PRS, etc.
Volume discounts
Decreasing prices by sample count. Special conditions for academic projects and long-term collaborations.
1–9 samples
Pilot projects or small studies
- Extraction and library
- DNBSEQ sequencing
- FASTQ delivery
- Optional bioinformatics
10–49 samples
Standard cohort studies
- Extraction and library
- DNBSEQ sequencing
- FASTQ + BAM delivery
- Dedicated project manager
- Optional bioinformatics
50+ samples
Large cohorts and biobanks
- Customised conditions
- Staggered delivery
- Extended storage
- Bioinformatics support
Have a project in mind?
Write to us with the details (number of samples, coverage, deliverables) and we send a quote within 48 h.