Rare Perspectives Insights: Addressing VUS and Diversity in Rare Diseases through Newborn Sequencing
The potential of Newborn sequencing promises to eliminate variants of unknown significance by generating diverse genetic data from birth, enabling early disease detection, intervention, and comprehensive understanding of genetic variations across populations.
Mastermind Release Notes: See the Latest Updates
This is a running account of enhancements made to the Mastermind Genomic Search Engine. The most recent updates are at the top, followed by previous updates, so you can see all that the Genomenon team is doing to improve Mastermind in one place.
Enhancing the Mastermind User Experience Through Streamlined Workflows & Expanded Content
The team at Genomenon continues to build on its product innovations with the latest release of Mastermind, designed to further help diagnostic labs speed up workflows and quickly assess evidence for patient variants.
The Dawning of a New Age in Genomics
Genomenon’s resident Genomics visionary and Chief Scientific Officer Mark Kiel, shares his thoughts on how advances in AI, newborn screening, and collaborative research will ignite change in the coming year.
Mastermind Release Notes: Mastermind 3.0
Over the last year, the dedicated team at Genomenon have been working tirelessly to understand what users want and need from Mastermind. Today, we are launching the first step toward an enhanced user experience and user interface with the release of Mastermind’s new Gene Information Page.
Searching SNVs: Variant Nomenclature Options and Strategies
How to decide whether to search by protein, cDNA, or genomic position? And how does Mastermind treat those inputs differently? In this blog, we’ll explore strategies for searching single nucleotide variants (SNVs) and ways to get optimal results.