Experimental evidence for every variant

Innovative technology for variant classification

There is a huge mismatch between the volume of clinical genomic data being gathered and our ability to interpret it. This presents a major challenge to the promise of personalised medicine. Computational approaches to predicting variant effects can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. SkyLab’s functional assay service provides experimental evidence to support variant interpretation.

Functional assays

SkyLab Bio offers experimental services to quantify the functional consequences of non-coding regions of the human genome. By comparing expression with known benign and pathogenic variants, assay output can inform the clinical interpretation of variants of unknown significance (VUS).

Features:

Measure the effect of nucleotide changes, insertions and deletions
Significant advantages over cell-based reporter assays (faster turnaround, higher throughput, less expensive)
No shipping of samples

SkyLab Bio offers two types of functional assay to suit different throughput and turnaround time requirements.

VariantExpress

Turnaround: 10-15 days
Throughput: 2-100 variants
Cost: $

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MPRA

Turnaround: 10-16 weeks
Throughput: 10⁶ variants
Cost: $$$

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About us

We provide experimental evidence to help understand genetic variation which can be used for disease understanding and patient stratification. Find out more

Variants of unknown significance

Imagine a world where obtaining evidence for variants is quick and easy

Why functional assays?

How can functional assays revolutionise our understanding of variants