and BIRMINGHAM, England,
April 9, 2013
/PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, announced today that it has signed a license agreement for its cloud-based BENCH
CNV solution for genetic variant storage and analysis with West Midlands Regional Genetics Laboratory (WMRGL) at Birmingham Women's Hospital NHS Foundation Trust (BWHFT).
WMRGL is the first UK-based lab to license the Cartagenia BENCH
CNV platform, a software and database solution created in collaboration with genetics labs and clinical experts to automate and speed up testing practices and develop high-quality lab reports. For WMRGL, the Cartagenia solution will support the storage, filtration, analysis and interpretation of CNV data produced by the laboratories' pre- and post-natal testing services. The BENCH
solutions can also handle NGS data generated as gene panels, exomes and whole genomes and can automatically generate clinical reports specific to a laboratory's needs.
The Cartagenia BENCH
platform will also help link clinical and phenotypic data from the Fetal Medicine Centre at BWHFT with genetic data generated at WMRGL for submission into the UK EACH (Evaluation of Array Comparative Genomic Hybridisation in Prenatal Diagnosis of Fetal Anomalies) research project, a three-year national, multi-center study designed to assess how array CGH testing (also known as chromosomal microarray analysis) compares to traditional karyotyping in prenatal diagnosis in terms of detecting chromosomal imbalances in fetuses. The EACH project is built on another Cartagenia product, BENCH
Consortium, a solution for multi-center genotype and phenotype data aggregation projects.
Additionally, Cartagenia is working with WMRGL and several other centres in the UK's National Health Service (NHS) to create a pilot national CNV database in which UK-based diagnostic labs can optimally pool and share their genetic information. As envisioned, that database will ultimately be linked to the International Collaboration of Clinical Genetics (formerly ISCA), an even larger pool of research consortia.