Reports, Papers, and Case Studies

Genomic Resources for Clinical Labs, Pharma, and Biotech

PUBLISHED RESEARCH: Mastermind: A Comprehensive Genomic Association Search Engine

This peer-reviewed study, published in Frontiers in Genetics, shows how Mastermind improves the sensitivity and reproducibility of clinical variant interpretation.

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CASE STUDY: The Genomic Landscape of Rare Obesity Disorders

How a leading rare disease pharma company leveraged genomics intelligence from Genomenon to target their clinical trials.

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MASTERMIND STORY: Rady Children’s Institute for Genomic Medicine

Read the compelling story of how RCIGM solved the clinical case of a week-old baby with the help of a single reference found only in the Mastermind Genomic Search Engine.

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RESEARCH REPORT: Fusion Genes of Clinical Significance

The data in this 2019 report reveals over 140 novel gene fusions found across nearly 500,000 newly published scientific articles containing genomic content.

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MASTERMIND STORY: Rare Genomics Institute

RGI used the Mastermind Genomic Search Engine to find a single research report in the scientific literature that matched a previously undiagnosed patient’s DNA data and led to a diagnosis. 

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CASE STUDY: Standardizing Medical Interpretation of Genomics Data

How the University of Vermont Medical Center adopted the Mastermind Genomic Search Engine to improve their literature search process.

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RESEARCH REPORT: Emerging Genomic Variants in 2018

New genomic insights in this report published in 2019 indicate an emergence of drug resistance in cancer and focus on rare disease research

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WHITE PAPER: Evidence-Based Gene Panel Design

Learn how to design an NGS gene panel from evidence found in the scientific literature. Includes an example pan-hematopoietic malignancy panel.

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