Overview

Illumina Connected Insights - Research is a software solution that enables tertiary analysis of next-generation sequencing (NGS) data. There are two versions of Illumina Connected Insights - Research:

• Connected Insights - Cloud—This version is hosted by Illumina.

• Connected Insights - Local—This version is installed on the local DRAGEN server. Both versions of Illumina Connected Insights - Research have the same functionality, but Connected Insights - Local has differences in installation, administration, and license management due to the method of deployment.

In the current version, Connected Insights - Research enables tertiary analysis of variant data generated using somatic oncology assays. The software accepts data generated from DNA and RNA sequencing workflows and can be configured to accept input data from oncology assays and variant callers. Connected Insights integrates several genomic databases that are used to annotate uploaded data to help understand its biological significance.

The software supports variants frequently identified in tumor samples (for example, SNVs, insertions, deletions, fusions, and structural variants). The software also accepts and enables user interpretation for genome-wide biomarkers (for example, tumor mutational burden (TMB), microsatellite instability (MSI), and genomic instability score (GIS) used to assess homologous recombination deficiency (HRD)).

The software has the following features:

• Automated upload of secondary analysis files and case creation

• Case management

• Annotation of genes and variants using connected databases

• Storage of variant interpretation records (assertions) produced by the user

• Configurable test definitions

• Customizable gene and variant filters

• Visualization of variant information

• Generation and editing of summary reports

• Manage knowledgebase