Clinical Variant Analysis for Cancer

Applying AMP Guidelines to Analyze Somatic Variants

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. This eBook gives an overview of how the clinical diagnostic process is designed. In this context, Dr. Scherer 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.

About the Author
About the Author

Dr. Andreas Scherer is CEO of Golden Helix. The company has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for over a decade. Its innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With its solutions, hundreds of the world’s top pharmaceutical, biotech and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics and advance the quest for personalized medicine. Golden Helix products and services have been cited in over 1100 peer-reviewed publications.

He is also Managing Partner of Salto Partners, a management consulting firm headquartered in the DC metro area. He has extensive experience successfully managing growth as well as orchestrating complex turnaround situations. His company, Salto Partners, advises on business strategy, financing, sales and operations. Clients are operating in the high tech and life sciences space.

Dr. Scherer holds a PhD in computer science from the University of Hagen, Germany, and a Master of Computer Science from the University of Dortmund, Germany. He is author and co-author of over 20 international publications and has written books on project management, the Internet and artificial intelligence. His latest book, “Be Fast Or Be Gone”, is a prizewinner in the 2012 Eric Hoffer Book Awards competition, and has been named a finalist in the 2012 Next Generation Indie Book Awards!