AMP 2017 Workshop: Developing Evidence-Based NGS Gene Panels

AMP 2017 Workshop: Developing Evidence-Based NGS Gene Panels

Mining Genomic Literature to Develop Evidence-Based NGS Panels

Corporate Workshop at AMP 2017

Wednesday, November 15, 2017, 4:00 PM, Room 255D
Dr. Victor Weigman, Director, Translational Genomics at Q2 Solutions
Dr. Ryan Schmidt, Molecular Genetic Pathology Fellow, Harvard Medical School
Dr. Mark Kiel, CSO and Founder, Genomenon

Clinicians and researchers face a daunting challenge when reviewing genomic information in the biomedical literature to devise diagnostic NGS panels. In this workshop, a novel method to identify disease-gene and disease-variant relationships using the Mastermind® Genomic Search Engine will be discussed.

Dr. Schmidt will review emerging data outlining concordance and content coverage when using Mastermind compared to conventional PubMed searching. Dr. Weigman will then present a method for evidence-based gene-panel design used to select the content for an Acute Myeloid Leukemia panel by mining millions of full text genomic articles to identify disease-gene-variant relationships using Mastermind. By generating a comprehensive list of biomarker candidates associated with a specific disease in the scientific literature, an evidence-based gene panel can be created in under a week with literature citations for each biomarker selected.

In addition, Dr. Kiel will announce a pan-hematopoietic malignancy gene panel with supporting evidence including prioritized literature citations for each candidate gene designed using Mastermind. This evidence-based gene panel will be available as a white paper at the Genomenon Exhibitor Booth #1503 throughout the AMP 2017 conference.

Rational NGS panel design
Creating and evidence-based NGS gene panel by mining the genomic literature

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