New eBook Release: Clinical Variant Analysis for Cancer

         June 6, 2019

Applying AMP Guidelines to Analyze Somatic Variants

Today, I am thrilled to share with you the launch of a brand new eBook titled “Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants”. We would happy to send you a complimentary copy which can be requested on our website here.

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 I sent over earlier this week 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 Analysis – 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 I’m sharing with you today.

Our special thanks go to the NIH for providing Golden Helix with exceptional funding to develop our CNV solutions. This work is funded under the following grants: R43GM128485-01, R43GM128485-02, 2R44GM125432-01, and 2R44GM125432-02.

If you would like to request a copy, please send a request to our team here: I hope you enjoy this literature and have a wonderful weekend.

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