Congenica Selected by Genomics England to Provide Clinical Interpretation Services
News Jun 03, 2015
Tom Weaver, CEO of Cambridge-based Congenica says, “A robust, scalable solution is essential for the NHS. We will be performing whole genomic diagnosis for 2,500 patients, which is unprecedented and will take the technology to the next phase.”
Congenica’s SapientiaTM diagnostic platform is being used within the 100K Genome Project for Clinical Interpretation. It identifies the single-gene mutations that are associated with diseases and provides this information in a format that can easily be interpreted by a hospital consultant.
In the last three years there has been an exponential growth in genetic knowledge and this has seen the identification of nearly 30 new disease genes a month, creating a major challenge for NHS diagnostic services. At present testing for over 600 disorders is available within the NHS, but this represents only a quarter of the known disease genes and these tests are performed step-wise. The introduction of whole genome sequencing has the potential to improve the quality and speed of diagnosis and reduce the cost.
Dr Durbin developed techniques to identify, annotate and interpret whole genome DNA sequence data while working on the 1000 Genomes, he says this next stage is vital to develop the reference database: “Not all gene mutations cause disease so patient data is vital to identify which are critical. With access to more data we will be able to improve diagnoses for patients.
Lead-Free Ammunition Even More Toxic than Traditional ShotNews
Hunting with lead shot is highly restricted or entirely banned in many countries due to the danger of poisoning birds and environment. However, alternative ammunition is not without its own risks, as revealed in a recent study.READ MORE
Supersonic Waves May Help Electronics Beat the HeatNews
Researchers made the first observations of waves of atomic rearrangements, known as phasons, propagating supersonically through a vibrating crystal lattice—a discovery that may dramatically improve heat transport in insulators and enable new strategies for heat management in future electronics devices.READ MORE
Researchers Awarded $28M for Illuminating Druggable Genome NIH GrantsNews
Researchers receive grants as part of the NIH program focused on experimental and informatics approaches to characterize understudied proteins from three gene families: ion channels, G protein-coupled receptors (GPCRs), and protein kinases.READ MORE
Comments | 0 ADD COMMENT
9th International Conference on Mass Spectrometry and Chromatography
Sep 21 - Sep 22, 2018