Skip to main content

UK-Based Hospital Adopts Cartagenia's BenchLab CNV Solution for Clinical Data Storage, Analysis

Premium

This week, Cartagenia said that Birmingham Women's Hospital NHS Foundation Trust has licensed its cloud-based BenchLab CNV solution to support genetic variant storage and analysis.

Specifically, Cartagenia said that its software will support the storage, filtration, analysis and interpretation of copy number variant data from pre- and post-natal testing services run by BWHFT's West Midlands Regional Genetics Laboratory, or WMRGL.

WMRGL researchers will also use the BenchLab platform to link genetic data with clinical and phenotypic data from BWHFT's Fetal Medicine Center. The combined data will be submitted to the UK's Evaluation of Array Comparative Genomic Hybridization in Prenatal Diagnosis of Fetal Anomalies research project, a three-year study that is designed to assess how array CGH testing compares to traditional karyotyping in prenatal diagnosis aimed at detecting chromosomal imbalances in fetuses.

Additionally, Cartagenia is working with WMRGL and several other centers in the UK's National Health Service to create a national CNV database for UK-based diagnostic labs to pool and share genetic information. That database will ultimately be linked to the International Collaboration of Clinical Genetics, which is a larger pool of research consortia.

Financial details of the arrangement with WMRGL were not disclosed.

Other customers of Cartagenia's tools include the Greenwood Genetic Center, a non-profit institute that provides clinical genetic services and diagnostic laboratory testing, which is using the company's software to interpret data from gene panels as well as exome- and whole-genome sequencing, and to generate clinical reports based on the results (BI 3/22/2013).

The Scan

Response Too Slow, Cautious

A new report criticizes the global response to the threat of the COVID-19 pandemic, Nature News reports.

Pushed a Bit Later

Novavax has pushed back its timeline for filing for authorization for its SARS-CoV-2 vaccine, according to Bloomberg.

AMA Announces Anti-Racism Effort

The Associated Press reports that the American Medical Association has released a plan to address systemic racism in healthcare.

Nucleic Acids Research Papers on miRMaster 2.0, MutationTaster2021, LipidSuite

In Nucleic Acids Research this week: tool to examine small non-coding RNAs, approach to predict ramifications of DNA variants, and more.