< Resources


Curating the Human Genome to Advance Early Identification of Rare Diseases

The most critical challenge to making newborn sequencing a reality is genomic variant interpretation at scale. Current approaches of interpreting variants one-by-one are impractical when it comes to screening a mostly healthy newborn population with whole genome sequencing. A radically different approach is needed to hit the time, cost, and throughput objectives for newborn screening of whole genomes.

In this live discussion and demonstration, industry experts show how a comprehensive, pre-curated list of causative variants can be used to rapidly screen for rare diseases and how a unique combination of AI-driven genomic technology and expert scientific review has emerged as the best and most viable way to curate the entire human genome.

The speakers describe Genomenon’s contributions to the BeginNGS™ initiative at the Rady Children’s Institute for Genomic Medicine, and how pre-curated classifications for every variant found in the scientific literature will be used to screen against over 450 genetic diseases at birth. They will then show how variant classification and supporting evidence is presented in the Mastermind® Genomic Search Engine to enable rapid assessment and identification of newborns at risk for developing a rare disease.

The session includes a Q&A session around the implications of this technology on the future of rare disease screening and diagnosis.

You will learn:

• How a unique balance of AI and expert review creates a solid foundation of high-quality evidence to understand the genetic basis of a targeted disease
• How the integration of data from the scientific literature with commonly used variant databases like ClinVar streamline accurate and timely diagnoses for patients
• How this approach is being used to comprehensively access and classify every variant in the human genome, starting with newborn sequencing applications

This webinar presentation hosted by Genomenon, is part of the 2022 Genetics and Genomics Digital Forum, two-day interactive event brought to you by ASHG.

Expert Speakers
Mark J. Kiel, MD, PhD
Chief Scientific Officer & Co-Founder

Mark has extensive experience in genome sequencing and clinical data analysis underlying the vision and technology driving the Genomenon suite of software tools.

Brittnee Jones, PhD
Vice President of Product & Product Strategy

Brittnee has spent over a decade building and leading customer success teams across the NGS space, ensuring rapid product adaption and maximal value for customers.


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

The World’s Most Comprehensive Source of Genomic Evidence

Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

Create your free account
The Most Comprehensive Source of Curated Genomic Evidence + Scientific Experts

We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.

Contact Us
Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.