Rapid, AI-Powered Genetic Disease Diagnosis for Critically Ill Infants
The researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) are known for working quickly. In February of last year, they broke the Guinness World Record for the fastest diagnosis through whole genome sequencing, with an average of 19 hours.
Continuing that work, they have built an automated pipeline to analyze data from electronic health records and genome sequences from dried blood spots to deliver a potential diagnosis for hospitalized.
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