In the search for simplicity - Secondary Analysis

Author: Pablo Botas, PhD

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The primary objective of genomic labs in diagnosing cases is to provide clear answers. However, managing multiple analysis pipelines to process NGS results removes resources away from this goal.

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Developing an analysis pipeline involves multiple steps, including data collection for each variant and test type, developing the pipelines, benchmarking, validation, setting up the infrastructure and connecting pipelines to each other, among other steps. Furthermore, maintaining and improving such pipelines require extra efforts aligned with internal SOPs that include benchmarks and validations on terabytes of data, which may fail and need to be repeated, and sharing an infrastructure with clinical case processing that must be respected and may not have high scalability. Additionally, expertise may not be available, for instance CNV/SV experts. Finally, regulatory compliance is paramount to guarantee quality.

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This complexity means that patients are ultimately impacted by not receiving results as quickly and precisely as possible due to resources being invested away from generating answers.

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With this understanding and with our strong experience in solving these issues for tertiary analysis with AION (CE-IVD), at Nostos Genomics we have developed a secondary analysis to provide a cutting edge pipeline that streamlines NGS data processing end-to-end and reduces complexity on our customer’s side.

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Focus on what really matters

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AION (CE-IVD), lets our customers focus on finding the right answers for their cases as fast as possible driven by technology. Our customers don’t have to worry about building and maintaining a variant annotation engine, in-silico AI predictors for multiple situations, gene-disease databases, visualisations, clinical significance models and a long list of features.

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With the new Secondary Analysis service, our customers can focus on what really matters and avoid a long list of efforts, including:

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1. Setting up a regulatory compliance QMS.
2. Selecting data for each variant type: small variants, CNVs, SVs, etc.
3. Selecting data for each test type: WES/panels, WGS.
4. Pipeline development for each variant type and test type.
5. Developing QC functionality.
6. Setting up benchmarking procedures and infrastructure.
7. Benchmarking solution.
8. Validating solution.
9. Designing and developing pipeline interfaces to prevent data inconsistencies and errors.
10. Creating and deploying scalable infrastructure.

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All of these efforts, plus changes in order to implement improvements, remove resources from the true goal: providing answers to patients.

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The introduction of secondary analysis as part of Nostos’ offering, addresses this need and facilitates a streamlined, efficient end-to-end workflow from raw sequencing data to actionable clinical interpretation.

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From sequencing to interpretation with Nostos’ secondary analysis

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Nostos' new secondary analysis service is designed to address the points above by offering a seamless, scalable solution that bridges the gap between primary sequencing and variant interpretation. Here’s how:

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1. State of the art alignment and fast alignment and variant calling algorithms to deliver the best results: variant detection accuracy higher than 99% and custom variant databases built to deliver the best CNV calling for WES data.
2. We take care of improvements in a regulatory compliant way, so you don’t have to worry.
3. Automated quality control, which minimises the need for manual interventions.
4. Automated variant annotation and prioritisation through AION (CE-IVD).
5. Scalable and Future-Proof Solutions, built by a World class team.

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The power of a streamlined workflow: simplicity

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Simplifying the path from raw data to clinical interpretation reduces complexity, saves time, and enhances overall efficiency. By integrating an automated, scalable secondary analysis solution, your lab can overcome traditional workflow challenges and improve resource management, all while maintaining precision at every step.

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With Nostos' secondary analysis service, labs can focus on what matters most: interpreting difficult cases to deliver accurate, timely, and meaningful results that improve patient outcomes. That makes us happy.

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Book a free demo with Nostos Genomics if you want to your Lab to be able to simplify the complex variant interpretation process and focus on what matters - providing clear diagnoses for patients. 

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Nostos Genomics’ Secondary analysis service is Research Use Only.

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