Putting the Pieces Together, from Variant Calling to Biological Insights - A Lynch Syndrome Case Study

In this webinar, we present a case study on Lynch syndrome (LS), a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia that typically manifests in the context of germline variants in DNA mismatched genes. 
To study whether other germline pathogenic variants of hereditary cancer genes are present in patients previously diagnosed with LS, the researchers analyzed a comprehensive panel of cancer-predisposing genes by NGS among 84 LS probands.

With this study as an example, we will illustrate how you can use your own data and public data to conduct translational research using 3 software solutions from QIAGEN.

Learning Objectives:

1. Analyze how you can efficiently retrieve and process FASTQ data with accurate variant interpretation using CLC Genomics Workbench.

2. Interpret how you can take a set of variants and rapidly assess sample variants for disease relevance and pathogenicity using QCI Interpret Translational.

3. Discover how you can combine results and contextualize variant biomarkers with other public datasets using QIAGEN Ingenuity Pathway Analysis (IPA).