Reports, Papers, and Case Studies

Genomic Resources for Clinical Labs, Pharma, and Biotech

PUBLISHED RESEARCH: ENPP1 Deficiency: A Clinical Update on the Relevance of Individual Variants Using a Locus-sSpecific Patient Database

This paper with Inozyme Pharma, published in Human Mutation, reveals how creating a comprehensive database of curated variants that is widely accessible is crucial for increasing diagnosis of ENPP1 Deficiency.

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REPORT: Artificial Intelligence for Drug Discovery

This excerpt from the Q1 2022 report by Deep Pharma Intelligence highlights how Genomenon’s AI-driven approach identified 3.7x more evidence-supported, pathogenic/likely pathogenic variants.

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PUBLISHED RESEARCH: Novel PHEX Gene Locus‐Specific Database: Comprehensive Characterization of Vast Number of Variants Associated with X‐linked Hypophosphatemia (XLH)

In this paper with Ultragenyx, Genomenon provided a comprehensive literature review using Mastermind, a database of variants with evidence cited in the medical literature.

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POSTER: Development of a Comprehensive, Locus-Specific Patient Database for ENPP1 Deficiency

Presented at ASHG 2021 by Inozyme Pharma, this in-depth analysis of patient data for ENPP1 Deficiency produced by Genomenon identified close to 90% more pathogenic/likely pathogenic variants than ClinVar.

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ARTICLE: Comprehensive Genomic Landscape for ALS

This Journal of Precision Medicine article reveals the clinical and genetic complexity of ALS and impacts on diagnosis and genetic testing.

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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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REPORT: Key Findings from the Genomic Landscape for ALS

This report reveals research-driven insights from Genomenon’s comprehensive Genomic Landscape for Amyotrophic Lateral Sclerosis (ALS), and their implications for drug development and discovery within Pharma

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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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ARTICLE: The Battle of the BPAN Warriors

The Journal of Precision Medicine tells the story of the founder of BPAN Warriors and how Genomenon provided the organization with essential genomic information

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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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AWARD: Frost & Sullivan Company of the Year in Clinical Genomics Interpretation

Analysts Frost & Sullivan present their Company of the Year award to Genomenon for advancing Clinical Genomics Interpretation and Personalized Medicine with Its Mastermind Platform

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ARTICLE: The Journey Toward a Cure with Rare Disease Foundation NFED

The Journal of Precision Medicine describes the essential collaboration between Genomenon and rare disease organization The National Foundation for Ectodermal Dysplasias (NFED)

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