We are thankful for the genomics community.
Genomenon’s mission to curate the entire human genome has been a rewarding journey, and would not be possible without the support of our partners and collaborators in the research community. We are grateful for the opportunity to work together on improving outcomes for patients and their families.Below you will find some key highlights from the past month, including a presentation on newborn sequencing given at this year’s ASHG 2022 Annual Meeting by our chief scientific officer, Mark Kiel, MD, Ph.D., and an accompanying blog. You will also have a chance to read our most recent press release announcing exciting new updates to our BeginNGS initiative with Rady Children’s Institute for Genomic Medicine.
Variant Interpretation at Scale: Unlocking the Full Potential of Newborn Sequencing
In this live presentation at ASHG, Mark discussed some of the challenges of scaling the curation of the evidence for published variants, and how Genomenon is addressing these needs through their effort to rapidly curate the entire human genome.
ASHG and ICoNS: Event Recap and Insights from the CSO
In this event recap, Mark shares his perspective as a speaker and collaborator at both ASHG and the International Conference on Newborn Sequencing (ICoNS), plus new insights gained from exchanging ideas with genetics industry and academic leaders in person, including thoughts on the upcoming changes to ACMG variant interpretation guidelines.
Genomenon Provides Genomic Data on 450 Diseases to Advance Early Identification of Rare Disease in Newborns
In this press release, we announced more details on our plan to curate the genes associated with over 450 rare diseases for the purpose of newborn screening via next-generation DNA sequencing. The program is the first initiative in our mission to curate the entire human genome and is an essential part of the BeginNGS™ newborn sequencing project led by Rady Children’s Institute for Genomic Medicine (RCIGM).
READ THE ANNOUNCEMENT
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
