Reports, Papers, and Case Studies
Genomic Resources for Clinical Labs, Pharma, and Biotech
POSTER: Clarification of variant reporting for homologous genes resolved through systematic literature review – ACMG SF genes CALM1 CALM2 and CALM3
Presented at ACMG 2024 by Genomenon’s KT Curry, this study reports on the findings of semi-automated curation of the published dataset for the secondary finding (SF) genes CALM1, CALM2, and CALM3 (CALM) associated with severe calmodulinopathies.
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POSTER: An estimation of global prevalence of PLA2G6-associated neurodegeneration
Presented at ACMG 2024 by Genomenon’s Amina Kozaric, this study estimates the genetic prevalence of PLA2G6-associated neurodegeneration, which is an early onset progressive neurodegenerative disease.
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PUBLISHED RESEARCH: Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
Published in the Orphanet Journal of Rare Diseases, this paper reveals how Mastermind determined the genetic prevalence of ENPP1 deficiency to be 3X the previous estimate.
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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: 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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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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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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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: 2023 Frost & Sullivan Technology Innovation Leadership Award
Analysts Frost & Sullivan present their Technology Innovation Leadership Award award to Genomenon for advancing Clinical Genomics Interpretation and Personalized Medicine with Its Mastermind Platform
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AWARD: 2020 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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