The latest version of Sapientia™, v1.7, is to be released today (15th January 2018) bringing with it an array of infrastructure improvements, alongside three key new features: a simple and practical ACMG Guidelines interface, improved gene panel management and the first look at the automated interpretation request template.
Version 1.7 is underpinned by a significant number of infrastructure and framework enhancements and an ongoing commitment to improving the speed, stability and functionality of the software, which already puts more clinically actionable information in front of doctors, clinical scientists and academics than any other platform available. There is an increasingly intense focus being pulled onto the delivery of a functionally rich product suite from the Congenica team as they continue to improve the gold-standard clinical genomics analysis platform, Sapientia.
ACMG Guidelines
This release introduces a guided interface, which allows for easy classification of variants according to the American College of Medical Genetics and Genomics guidelines. This will enable users to make better, more informed and standardised pathogenicity assignments on any given variant, thus meeting current best practice standards.
Gene Panel Management
Significant improvements have been made to how gene panels can be managed within Sapientia. Full gene panels will now be able to be uploaded via a range of file types. Meanwhile superseded panels will be able to be easily and swiftly archived.
Interpretation Request Template
This enhancement provides the ability for users to download an Interpretation Request Template from the Sapientia user interface, to populate it in Comma Separated Variable (CSV) format and then submit with their files to be processed. The introduction of this new template removes the need to understand and use unfamiliar file formats, ultimately streamlining and simplifying the process for the end users.
This latest version of Sapientia will go live worldwide today (Monday 15th of January).
To find out more about Sapientia and the latest release, and how the software can help you, contact us at info@congenica.com.