Next-generation sequencing role in pharmacogenetics and pharmacogenomics
Next-generation sequencing (NGS) represents an efficient and reliable method to evaluate the contribution of both common and rare...
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WHOLE EXOME SEQUENCING (WES)
Decode the CDS
For researchers and clinicians seeking a deeper understanding of the genetic underpinnings of disease, we offer whole exome sequencing (WES). Exome sequencing acts like a magnifying glass on the blueprint of life, the DNA. It zeroes in on the exome, the essential sections of genes that hold the instructions for building proteins.
By focusing on these protein-coding regions, exome sequencing can efficiently identify mutations that might cause hereditary diseases. Compared to analysing the entire genome, this targeted approach offers a streamlined and cost-effective method for pinpointing disease-causing mutations. This valuable tool empowers researchers to unlock the secrets of disease and clinicians to provide more accurate diagnoses and potentially guide treatment decisions.​
Customised Target Area
Our range of egSEQ Exome Target Capture kits gives you control of your data. Using the Exome as a base, customise the captured regions to best suit your project and maximise your findings.
Market-leading Pricing
Combining our in-house service with our own egSEQ reagents means we can offer prices unattainable to other providers.
Expert Bioinformatics
From data QC to variant annotation to genome assembly, our experienced team are here to help with your analysis.
Flexible Coverage
50X: Germline variant discovery.
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100X: Standard practice for somatic mutation discovery.
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200X: Oncology research and rare disease genes,
Quick Turnaround
From sample reception and DNA QC to data delivery, we aim to complete all exome-based projects within four weeks
Data Delivery
FASTQ or VCF data delivery via secure cloud or hard disk.
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