Genetic analysis and clinical interpretation made fast, precise and cost-effective.
BENCH lab for Next Generation Sequencing
With the advent of high-throughput Next Generation Sequencing technology, Full Exome Sequencing and multiplexed Single Gene and Gene Panel assays are quickly entering into routine genetic practice. The challenges in data management and clinical interpretation are huge.
Lab technicians and clinicians alike need to have the means to reliably sift through very large lists of patient genome variants in order to be able to make informed calls on what variants are potentially causal and should be reported clinically. Not only the data volume is challenging (where time efficiency becomes essential to cap interpretation cost and lab turn-around time) – it is crucial to be able to deal with the complex nature of variant call data to be able to reliably gauge their clinical significance.
Key features and benefits
With the BENCH Lab NGS platform, configurable and parameterizable workflows allow you to implement your Standard Operating Procedures on the software platform itself, accelerating and automating the interpretative process of narrowing down the set of variants that need to be clinically reported. This flexible and powerful work-flow system allows you to create, manage, use and store pre-configured filtration pipelines that implement and automate the often painstaking and tedious process of manually reviewing information resources in support of variant pathogeneity.
BENCH lab NGS in detail
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Embedded Knowledge
Cartagenia is committed to provide best-of-breed tools that allow these resources to be rendered clinically actionable. Public, private, commercial, research and clinical resources (locus specific databases, 1000 genomes, dbSNP, dbGaP, dbVAR, DGV, ClinVar, HGMD, MutDB, MutaDataBase, HGVS, DECIPHER, ECARUCA, OMIM, PubMed, RefSeq, UCSC and ENSEMBL resources, …) and pathogenicity prediction algorithms (Polyphen, SIFT, HaploInsufficiency and conservation prediction, …) in support of high-troughput genetic variant interpretation can now become truly useful in routine clinical diagnostics through Cartagenia’s powerful platform for workflow support, interpretation and reporting tools.
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Clinical application domains
The Cartagenia BENCH Lab NGS platform embeds a wide range of up-to-date resources into your routine diagnostic work-flow. In this way, your genetic counselors, referring physicians, clinical geneticists can and diagnose and counsel patients and carers with confidence, ensuring the Standard of Care that comes with consulting state-of-the-art knowledge resources.
The platform not only allows you to leverage these public research and clinical resources, but also integrates commercial curated databases, and, importantly, allows you to accrue and leverage your own private internal lab and clinical data, such as population specific variant libraries, recurrent findings in families, variants linked to specific phenotypes, lab-specific gene panels, and much more.
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Process integration
The platform enables you to gain significant efficiency through integration with local LIMS systems and software for variant calling and raw sequence data analysis and automated variant interpretation, and is customized to perfectly match your end-to-end lab and clinical processes from assay requisitioning over data interpretation to sending out a concise, informative report.
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Leveraging knowledge resources, and contributing to the community
Cartagenia strongly believes that functional and medical variant annotation information is a key community resource for both research and diagnostics, and this information should be free and open to the public. It is for this reason that Cartagenia supports streamlined submission to public variant registries, databases and research as well as clinical annotation initiatives, right from the routine diagnostic pipeline.
Professional training
Cartagenia provides professional on-site one-day training sessions. These training sessions consist of theory, demonstrations, and practical excercises with the BENCH software and will kick-start its use in your routine clinical work. Upon request, certificates of the training can be provided.
Bert Coessens - Operations Director - Cartagenia nv
E-mail: bert.coessens@cartagenia.com
Phone: +32 485 40 40 60
Technical support
Cartagenia is able to offer its customers first-class technical support through its dedicated team of highly skilled professionals. Be your question technical, scientific, or clinical our team members will be able to help you further, expand your knowledge of the BENCH software suite, and optimally align it with your needs in clinical genetic diagnosis.
Contact us
We organize custom online presentations
The BENCH software suite contains a lot of functionality that is better seen than explained in words.
Do not hesitate to contact us for a custom online presentation and demonstration of the suite. We give many presentations to interested people. Depending on the time available to you, we can provide you with a short overview in 30 minutes, or a full-blown 2-hour demonstration.
Call or e-mail us with your questions
You can allways call or e-mail us with your questions. We will answer them as soon as possible.
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