The Enterprise Group faced several projects which would use Next Generation Sequencing for population scale projects in numbers suitable for high throughput sequencing. As a result, Life Technologies turned to a partner who could help build an informatics system to manage workflows and data. That partner is Core Informatics.
The group worked closely with Core to configure a comprehensive LIMS system for today and tomorrow’s growing clinical genomics needs. In fact, they used the built-in flexibility andconfigurability of the Core LIMS to basically fit a square peg into a round hole.
The Life Technologies teampartners with clients that have large, population-scale demands for next generation sequencing by providing a seamless Smart Lab solution that bundles all of the devices, software and services required to execute these ambitious projects. Core Informatics was chosen to provide the informatics in the Smart Lab solution due to the flexibility and configurability of the Core platform. With Core LIMS, the team created its own workflows for these enormous projects without having to go back to Core or hire outside programmers to develop exactly what was needed.
One project, theSaudi Human Genome Program, involved population scale screening of over 100,000 genomes. Its purpose was to help integrate sequencing data into actual healthcare use for Saudi citizens. In support of the Saudi Human Genome Program, Thermo and Core co-developed NGS workflows. They created three new NGS workflows which utilize high-throughput sequencing: gene panel workflows, whole exome workflows, and whole genome workflows.
A slightly smaller scale project for the team wasStratified Medicine Scotland. This research-based program was developed to create diagnostic tests to detect if disease-causing genes are present in a sample. Thanks to the configurability of the Core system, another new workflow was created specifically for this project.
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