Evidence-Based Gene Panel Design – There Has to be a Better Way

Evidence-Based Gene Panel Design – There Has to be a Better Way

Rational Panel Design Can Leverage Disease-Gene-Variant Associations Found in Literature. Clinicians and researchers face a daunting task when developing gene panels for any particular disease. Many times, gene panels are designed over a number of months by committee and laborious searches for evidence on which genes, exons and hotspots to include in the panel. Given … Continue reading Evidence-Based Gene Panel Design – There Has to be a Better Way

AACR Poster:  An Automated Approach to Rational Panel Design

AACR Poster: An Automated Approach to Rational Panel Design

Dr. Matthew Schu, Sr. Bioinformatician at Q2 Solutions - EA Genomics, Dr. Victor Weigman, Director of Translational Genomics at Q2 Solutions - EA Genomics and Dr. Mark Kiel, CSO at Genomenon presented a poster at AACR this week on an automated approach to gene panel design.     The full title and a link to the … Continue reading AACR Poster: An Automated Approach to Rational Panel Design

Late Breaking Research Poster at AACR: An Automated Approach to Gene Panel Design

Late Breaking Research Poster at AACR: An Automated Approach to Gene Panel Design

Dr. Victor Weigman, Director of Translational Genomics at Q2 Solutions, Dr. Matthew Schu, Senior Bioinformatician at Q2 Solutions and Dr. Mark Kiel, CSO and Founder of Genomenon will present a late-breaking research poster at AACR.  The poster is titled "An Automated Approach to Identifying Disease-Gene Associations from the Medical Literature to Inform Gene Panel Design." In the … Continue reading Late Breaking Research Poster at AACR: An Automated Approach to Gene Panel Design

Mastermind Now Supports Genomic Coordinates and cDNA Search

You asked, and we listened! The Genomenon Team would like to give a big shout-out to all of our users for their constructive feedback on Mastermind and the features that they would like to see incorporated into the software. We have added several new search and display features to address the variant nomenclature issues faced … Continue reading Mastermind Now Supports Genomic Coordinates and cDNA Search

Faster Variant Curation for Illumina’s TruSight Tumor 170 Solid Tumor Cancer and Cardio Panels

With the initial release of Mastermind, we have included full coverage of the medical literature to cover the 170 genes in TruSight Tumor 170 Panel for solid tumor cancer testing and 174 genes in the TruSight Cardio Panel for cardiomyopathies, arrhythmias, and aortopathies. In developing Mastermind, we have spent the last three years poring through 3.3 million full-text articles and found every disease-gene-variant combination discussed … Continue reading Faster Variant Curation for Illumina’s TruSight Tumor 170 Solid Tumor Cancer and Cardio Panels

An Automated Genomic Knowledge Base

An Automated Genomic Knowledge Base

The challenge of translating genomic knowledge from the medical literature into clinical insight to drive diagnostic decisions is the focus of Genomenon's poster presentation at AGBT (Advances in Genome Biology and Technology) 2017 General Meeting this week in Hollywood Florida. Mark Kiel MD, PhD will be presenting "Mastermind: An Automated Genomic Knowledge Harvesting and Genomic … Continue reading An Automated Genomic Knowledge Base