The individualized nature of tumors requires genomic testing for providing the best outcomes for patients. Next Generation Sequencing enables the detection of small mutations, copy number changes, and common fusions affordably and with high precision. However, the interpretation of these detected variants is arduous without a comprehensive analytical workflow that can incorporate all the bioinformatic and clinical evidence involved in following the AMP guidelines for the scoring and reporting of somatic mutations.
Please join us as we reveal the AMP guidelines workflow support in VSClinical. We will cover the entire post-sequencing analytical workflow from FASTQ to clinical report, including:
- Apply the AMP Tiers to the available clinical evidence for Drug Sensitivity, Drug Response, Prognostics and Diagnostics
- Support small mutations (SNPs, InDels) along with CNVs, fusions and wild-types as relevant biomarkers for the reporting of clinical evidence
- Develop a lab-specific knowledgebase of interpretations that allow maximum re-use of interpretations and descriptions from one patient to the next
- Leverage the built-in Golden Helix CancerKB interpretation knowledgebase that covers many common genes and biomarkers
- When detecting inherited and not somatic variants in a patient, score and classify them using the ACMG guidelines and report as secondary germline findings
- Use the Oncogenicity scoring system for evaluating the impact of variants in cancer
- Customize your clinical report using Word to reflect your lab's preferences and branding
Building on the success of VSClinical’s ACMG guidelines, the new VSClinical AMP guidelines enables new and existing labs to provide genetic tests for cancer efficiently and with a focus on delivering consistent and accurate results.
About the Presenter
Gabe Rudy is GHI’s Vice President of Product and Engineering and team member since 2002. Gabe thrives in the dynamic and fast-changing field of bioinformatics and genetic analysis. Leading a killer team of Computer Scientists and Statisticians in building powerful products and providing world-class support, Gabe puts his passion into enabling Golden Helix’s customers to accelerate their research. When not reading or blogging, Gabe enjoys the outdoor Montana lifestyle. But most importantly, Gabe truly loves spending time with his sons, daughter, and wife.