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.
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.
Genomenon and Boston Genetics Join Forces to Curate the Human Genome
Founder Mark Kiel comments on today’s news of the acquisition of leading genomics interpretation and curation company, Boston Genetics, and what it means for the race to curate the human genome.
ASHG and ICoNS – Event Recap and Insights from the CSO
Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.
Mastermind: The Engine Behind the Future of Newborn Sequencing
Last month’s World Orphan Drug Congress brought together more than 250 insightful speakers, including a key leader from Rady Children’s Hospital who focused on the new new BeginNGS™ (pronounced “beginnings”) program, based at the Rady Children’s Institute for Genomic Medicine (RCIGM).
Curation of the Entire Human Genome Requires the Best of Both Human and Artificial Intelligence
Earlier this month, I wrote an opinion article for Technology Networks on how a combination of both human and artificial intelligence technologies have the potential to expedite curation of the entire human genome – and how Genomenon is uniquely suited to address this important challenge.