Agilent has released Cartagenia Bench Lab 5.0, a new version of its lab software with capabilities for somatic variant classification and reporting.
Cartagenia Bench Lab is designed to help laboratories involved in clinical genetics and molecular pathology efficiently interpret and report on genomic variants. The clinical-grade software platform – registered as an exempt Class I Medical Device in the US – has become the platform of choice for many high-throughput diagnostic labs to help them validate and automate their variant assessment and reporting pipelines.
The software enables clinical geneticists and molecular pathologists to combine single nucleotide polymorphisms; small insertions and deletions (INDELs); and copy number variations into one seamless analysis. Variant curation tools allow them to review variants, collaboratively build evidence and securely share it with their peers and data-sharing communities.
The software's variant curation tools enable labs to build an internal knowledge base of predictive, prognostic, diagnostic and functional evidence of previously curated variants. By accessing tumour type-ontology and variant information from the curated and public databases, labs can efficiently implement their variant assessment standard operating procedure to more effectively filter variants and access knowledge based on the tumour’s tissue type.
‘We have always worked closely with our customers to identify their needs and translate those into new software releases,’ said Herman Verrelst, Agilent vice president and general manager of the company's Genomics Solutions Division and Clinical Applications Division. ‘Translating genomic data into actionable information is challenging. Today's launch demonstrates our commitment to providing leading-edge solutions for clinical diagnostics. The 5.0 release offers molecular pathology labs access to clinical-grade analysis tools and knowledge – one of the key pain points for the implementation of next-generation sequencing in routine oncology testing – to help them efficiently interpret sequencing data of tumour samples and provide actionable information by accessing publicly and curated databases containing peer reviewed evidence on diagnostic, prognostic and therapeutic variants.’
