--- title: NIHR BioResource and Congenica Finalists for Bio-IT World 2017 Best Practices Award description: NIHR BioResource and Congenica Finalists for Bio-IT World 2017 Best Practices Award image: https://blog.congenica.com/hubfs/Bio-IT-World-2017.jpg --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [NIHR BioResource and Congenica Finalists for Bio-IT World 2017 Best Practices Award](https://blog.congenica.com/2017/05/16/finalists-bio-world-2017-best-practices-award) ![NIHR BioResource and Congenica Finalists for Bio-IT World 2017 Best Practices Award](https://blog.congenica.com/hubfs/Bio-IT-World-2017.jpg) News # NIHR BioResource and Congenica Finalists for Bio-IT World 2017 Best Practices Award 5/16/2017    |    0 min read Congenica was recently announced as a finalist for the [Bio-IT World 2017 Best Practices Award](http://www.bio-itworld.com/2017/04/14/bio-it-world-announces-finalists-for-best-practices-awards.aspx) for the submission of the NIHR BioResource (NBR-Rhttp://www.bio-itworld.com/2017/04/14/bio-it-world-announces-finalists-for-best-practices-awards.aspxD) case study, as an example of how [Sapientia](https://www.congenica.com/about-sapientia/) was implemented to support the launch of a new, cost-effective genetic test for thrombotic and platelet disorders (BPDs). Sapientia, used for clinical interpretation and reporting, was a key part of making the project a success. The Bio-IT World Best Practices Awards were first established in 2003 to recognize excellence in bioinformatics, clinical research and the IT infrastructure supporting biology and drug discovery. Past winners have included Amgen, AstraZeneca, DNAnexus, Biogen, University of California and many others. ### NIHR BioResource and the new ThromboGenomics Test The [NIHR BioResource – Rare Diseases](https://bioresource.nihr.ac.uk/rare-diseases/rare-diseases/) (NBR-RD) has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments, improving care for those with rare diseases and their families. Bleeding, thrombotic and platelet disorders (BPDs) are a group of rare diseases that affect around 300 individuals per million births. There are 80 genes recognised as being associated with BPDs but genetic testing for such patients is not routinely offered, partly due to the cost of sequencing, and patients often have to wait several years and undergo several tests to get a conclusive diagnosis. The NBR-RD team in Cambridge, UK, has developed [ThromboGenomics](http://thrombo.cambridgednadiagnosis.org.uk/), an affordable high throughput sequencing platform that screens simultaneously for all the genes known to be associated with bleeding, thrombotic and platelet disorders, replacing the traditional single gene-based Sanger sequencing approach. It is available to clinicians in the NHS and beyond. Congenica has supported the NIHR BioResource – Rare Diseases in making this test successful.  Sapientia helps in the interpretation by linking variants identified through the test to external resources (reference datasets, curated variant lists, ClinVar, HGMD, PubMed…) and to an internal dataset of patients. The information is accessible through a single web browser for consideration by a multi-disciplinary team comprising consultant haematologists, clinical scientists and bioinformaticians. The meetings can be held remotely, bringing together experts who may be located anywhere in the world, improving accuracy and speed of interpretation. Reports can then be automatically generated and e-mailed to the clinicians. Dr Karyn Mégy, Clinical Feedback Lead in the NBR-RD team, commented: *“Sapientia’s web interface is a brilliant tool to bring the different experts in our multidisciplinary teams together. We involve clinicians working with the patients, and they come from all over the world, mostly the UK and the EU, but also the US, Canada and Israel. The web browser means everyone can have access to the same data at the same time without having to install anything; this has really facilitated our collaborations.”* For patients, this new genetic test is already making a huge difference to their quality of life, allowing rapid diagnosis and access, where available, to appropriate treatment. The Award Winners will be announced LIVE on May 25th at 8am during the plenary keynote session. --- ### Related articles ![SeqOne acquires Congenica to create a global leader in AI-powered genomic medicine](https://blog.congenica.com/hs-fs/hubfs/New%20logos/Congenica%20%26%20SeqOne%20Logo%20Without%20Tagline%20RGB.png?width=320&height=192&name=Congenica%20%26%20SeqOne%20Logo%20Without%20Tagline%20RGB.png) 9/2/2025 #### [SeqOne acquires Congenica to create a global leader in AI-powered genomic medicine](https://blog.congenica.com/seqone-acquires-congenica-to-create-a-global-leader-in-ai-powered-genomic-medicine) Strategic acquisition of UK genomics leader Congenica reinforces SeqOne market position and footprint - servicing over 160 labs in 30+ countries ![Congenica showcased in Genomics Spotlight 2024 Report](https://blog.congenica.com/hs-fs/hubfs/male%20doc%20with%20child%20and%20mum%20light%20small%20.jpg?width=320&height=192&name=male%20doc%20with%20child%20and%20mum%20light%20small%20.jpg) 11/6/2024 #### [Congenica showcased in Genomics Spotlight 2024 Report](https://blog.congenica.com/congenica-showcased-in-recently-launched-genomics-spotlight-2024-report) We are thrilled to announce that Congenica is one of the companies showcased in the recently launched Genomics Spotlight 2024 report produced by the UK Department for Business and Trade (DBT). ![Congenica Named Best Genomic Data Analysis Software Company 2024 by GHP](https://blog.congenica.com/hs-fs/hubfs/Onco%20.png?width=320&height=192&name=Onco%20.png) 6/19/2024 #### [Congenica Named Best Genomic Data Analysis Software Company 2024 by GHP](https://blog.congenica.com/congenica-named-best-genomic-data-analysis-software-company-2024-by-ghp) We are thrilled to announce that Congenica has been awarded the title of "Best Genomic Data Analysis Software Company 2024" by Global Health & Pharma Magazine.  ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. In all other countries, ensuring compliance with relevant local, national and international clinical laboratory regulations is the responsibility of the laboratory. - [Privacy Policy](http://www.congenica.com/privacy-policy) - [Cookie Policy](http://www.congenica.com/cookie-policy) Log in to Congenica ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) ![CE](https://blog.congenica.com/hs-fs/hubfs/CE.png?width=80&height=80&name=CE.png) ![ISO-27001](https://blog.congenica.com/hs-fs/hubfs/ISO-27001.jpg?width=80&height=80&name=ISO-27001.jpg) ![TR-Testmark_9000030872_EN_2024_CMYK](https://blog.congenica.com/hs-fs/hubfs/2023%20website%20images/TR-Testmark_9000030872_EN_2024_CMYK.png?width=80&height=80&name=TR-Testmark_9000030872_EN_2024_CMYK.png) ![HIPAA Compliant](https://blog.congenica.com/hs-fs/hubfs/HIPAA%20Compliant.png?width=80&height=80&name=HIPAA%20Compliant.png) Copyright © 2026 Congenica Ltd. Company number: 8273616 Registered in England and Wales.