Clinical Variant Analysis for Cancer

The clinical utilization of Next-Gen Sequencing data to diagnose cancer has taken off. Along with it, the need arose to standardize the interpretation and reporting of observed genomic variations. In this eBook, I give an overview of how the clinical diagnostic process is designed. In this context, I also explain how our products support clinicians in their decision making in concordance with the guidelines issued by the College of American Pathologists (AMP).

This eBook should be read in the context of two others that appeared in our series. The first one is called “Genetic Testing for Cancer”. It describes the general background of NGS-based tests in this field. It outlines, how we zero in on variants and CNVs of interest with the help of a state-of-the-art secondary and tertiary analytics pipeline.

The second eBook is called “Clinical Variant Interpretation – Applying ACMG guidelines to Analyze Germline Diseases”. It is relevant for Clinicians who need to report on hereditary cancer types such as BRCA1 and BRCA2. This topic is also covered briefly in this eBook.

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