Technology

Comprehensive and accurate screening of 281 genetic conditions, powered by state-of-the-art genomic technologies

Our commitment to innovation extends beyond data generation, integration and interpretation. Sema4 is also deeply invested in driving advances in genomic and biologic technologies. To that end, we use 6 genomic technologies in parallel to ensure the highest detection rate for each gene. This combination of technologies allows for a broader range of clinical and scientific applications through the generation of flexible and robust data types across a variety of standard and niche genetic loci.

Our genomic technologies include:

Single Cell Analysis

Beyond bulk DNA and RNA sequencing methods, our expertise is centered on single cell and low-input characterization using Berkeley Lights technology. Single cells can be isolated from viable tissue with the capacity of thousands of cells per day from individual samples. These cells may then be prepared using a variety of molecular methods for post-amplification sequencing.

Companion Technologies

In order to deliver end-to-end solutions, we also utilize a number of companion technologies in the clinical setting to augment our genome sequencing, including: MassARRAY® (Agena Biosciences) multiplex ligation-dependent probe amplification (MLPA) (MRC Holland), array comparative genomic hybridization (Agilent), 3730DNA Analyzers (Applied Biosystems). For the diagnosis of metabolic disease, we use Agilent triple quadrupole mass spectrometry and 6550 ion funnel quadrupole time of flight mass spectrometry.