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.

View the Poster

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.

View the Poster

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.

Read the Paper

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.

Get the Report

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.

Read the Paper

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.

View the Poster

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.

Read the Paper

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.

Read the Article

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

Read the Paper

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

Get the Report

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

Read the Case Study

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

Read the Mastermind Story

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

Read the Article

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 

Read the Mastermind Story

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

Read the Case Study

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

Read the Report

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

Read the Report

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)

Read more

Mastermind Genomic Intelligence Platform
There’s a Better Way Than Google Scholar