Artificial Intelligence Aiding Human Interpretation Of Sequenced Genomes

Genomics News

A “quiet revolution” has been underway over the past year, exponentially growing the number of genetic variants discoverable by genome sequencing, according to Stephen Kingsmore, M.D., president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego. Notably, it is now possible to identify an enormous number of structural variants—large genomic alterations that […]

Artificial Intelligence Can Rapidly Diagnose Rare Genetic Diseases

Genomics News

An artificial intelligence (AI)-based algorithm can quickly diagnose rare genetic diseases in critically ill children with high accuracy, allowing earlier treatment, according to a new report. “This study is an exciting milestone demonstrating how rapid insights from AI-powered decision support technologies have the potential to significantly improve patient care,” Dr. Mark Yandell, professor of human […]

Rady Children’s Team Presents Genomic Medicine Management Tool at ASHG

Genomics News

A Rady Children’s Institute for Genomic Medicine-led team has developed an automated management guidance system for pediatric patients with rare genetic conditions who have been testing by clinical sequencing. RCIGM President and CEO Stephen Kingsmore outlined the resource and rationale for it during a session on omics-based diagnostic approaches at the American Society of Human Genetics annual […]

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