NGS Bioinformatics software has come of age. Our workflows need software solutions that don’t only carry out the correct calculations to give the correct results reliably and unambiguously, but that are architected and designed with safety, confidentiality and usability as key principles throughout. Real-world software must be able to integrate cleanly and reliably with laboratory and clinical systems, and also be able to scale with users’ needs. In this presentation, we review the role of software in NIPT and related NGS test workflows, and consider how it can be built to create turnkey solutions for analysis and sample and clinical test data management that integrate seamlessly with test workflows.

Learning Objectives:

1. Understand the roles of software in sequencing-based test workflows.

2. Describe the foundation user needs that software in sequencing-based workflows must meet, and explain the importance of each.

3. Give examples of how the key software user needs might be met in a real-world example of a test workflow, such as for non-invasive aneuploidy testing.