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Exome Sequencing
Whole-exome sequencing captures the protein-coding regions where most known disease-causing variants occur — a cost-effective route to clinically relevant variant discovery with expert annotation.
What we offer
Capture of ~20,000 coding genes
SNV, indel & CNV detection
Clinical-grade ACMG classification
Trio & singleton designs
What you receive
Raw FASTQ data with QC reports
Reference-aligned BAM / CRAM files
Annotated variant calls (VCF)
De novo / hybrid assembly contigs
Coverage & quality metrics dashboard
Publication-ready summary report
Workflow
1
Sample & QC
Extraction, QC and library prep under documented, standardised protocols.
2
Sequencing / Processing
Calibrated runs and pipelines on validated platforms.
3
Bioinformatics
HPC-backed assembly, alignment, variant calling and annotation.
4
Report & Insight
Publication-ready reports, with a dedicated project manager throughout.
Frequently asked
We accept tissue, whole blood, cell pellets, extracted DNA/RNA and a range of environmental and microbial samples. Our team advises on collection and shipping for each project.
Specifications
TargetWhole exome (~30–60 Mb)
Coverage100x mean
SampleBlood · Saliva · DNA
Turnaround3 – 5 weeks
Get a tailored quote
Tell us your sample type, scope and timelines — we'll respond within one business day.
Request a Quote