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BaseSpace Partner

Diagnomics and its partner - The Eone-Diagnomics Genome Center (EDGC) in Songdo Inchon, Korea - have recently teamed up with the industry leader in commercial genome sequencing, Illumina. In 2012, Diagnomics was selected to be Illumina's IGN partner for Basespace. We have released a popular genome annotation and interpretation tool called EDGC annotator.

Illumina's BaseSpace program has been developed to monitor a client's instruments, store data, perform analyses, and share sequencing data in a secure cloud environment. Thus, BaseSpace eliminates the need for an onsite computing infrastructure, with scalable and limitless data storage in the cloud. Basespace users can manage all of their data analyses and easily collaborate with scientists around the world in a secure, real-time environment.

Diagnomics and EDGC develop cutting-edge diagnostic tools for personal genome sequencing and analysis, which enable comprehensive interpretation of individual genomes as part of routine medical care. We are thriving to provide individualized strategies for diagnosing, treating and preventing disease based on information obtained from personal genomes.

EDGC Annotator

The EDGC Annotator is an efficient app that annotates functionally genetic variants from human genome by providing information about cancer related variants, genomic regions, allele frequency data, clinical knowledge and insights using ClinVar, OMIM, COSMIC, 1000 Genomes Project allele frequencies, dbSNP and the VEP (Variant Effect Predictor) database. The resulting analysis files are provided as reports in excel and html format in the blink of an eye. The EDGC Annotator uses industry-standard VCF (Variant Call Format) files and focuses only on coding regions [stop gained, stop lost, frameshift variants, inframe insertions, inframe deletions, missense variants] and filters out noncoding regions. Additionally, the VEP report includes information before filtering. To use the EDGC annotator, simply launch the application from the BaseSpace App store or from the App Drop-Down list for use in your project and select your VCF file. Analyses and reports provided by the EDGC Annotator are for informational and research purposes only and are subject to continuous change and updates.

Global Screening Array Consortium

Diagnomics as well as its partner company EDGC are proud members of Illumina's Global Screening Array Corsortium. This consortium developed a highly economical array for population-scale genomics and genetic risk screening. The Global Screening Array combines a universal genome-wide backbone optimized for high imputation accuracy, with hand-curated clinical research variants designed against the breadth of functional variation.

Consortium members include The Broad Institute, deCODE Genetics, health systems Avera Health, Codigo46, Diagnomics, Eone Diagnomics Genome Center (EDGC), Sanford Health and UCLA Health System, genomic service providers Centre National de Genotypage, Human Genomics Facility HuGeF, Erasmus MC, Life and Brain, and 23andMe, Inc.. Millions of samples will be screened, with global participation from over 200 members from 55 institutions, including biobanks, clinical researchers, pharmaceutical companies, and health care providers.

Illumina presentation of EDGC Annotator
EDGC Annotator
Illumina Sequencers