As part of our mission to curate the entire human genome, we are curating all the genes in the BeginNGS™ screening panel(which includes over 400 diseases) to ACMG clinical guidelines. This will provide Rady Children’s Institute for Genomic Medicine (RCIGM) with a comprehensive, actionable dataset on the variants found to cause rare disease, and will be the foundation for the BeginNGS™ screening panel.

This curated data will also be available to Professional Edition users of Mastermind to accelerate genetic diagnosis and support clinical decision-making for rare disease.

BeginNGS™ is a novel health care delivery system at RCIGM designed to screen newborns for genetic diseases and connect their doctors with effective treatment options. It will create life-saving opportunities for patients and their families at very early stages by providing clinicians with powerful insight on how these diseases form, and how to treat them. Genomenon is honored to be contributing to this bold new program.

About Genomenon

Genomenon is an AI-driven genomics company that organizes the world’s genomic knowledge to connect patient DNA to scientific research in the diagnosis and development of treatments for patients with rare genetic diseases and cancer.

For more information, visit Genomenon.com