The whole-exome data was extracted from previously diagnosed newborns and rare disease patients at the Rady Children’s Hospital-San Diego and other clinical sites.
“Fast and definitive genetic diagnosis is essential to providing the right treatment in a timely manner for critically ill newborns. Fabric GEM has successfully demonstrated that it can automatically and quickly suggest a very short list of candidate genes for interpretation through whole-genome or whole-exome sequencing,” says Stephen Kingsmore, MD, DSc, a co-author of the study and the President and CEO of Rady Children’s Institute for Genomic Medicine.
In addition, the study also demonstrated the use of Clinithink’s CLiX focus, a natural language processing (NLP) technology applied to medical notes recorded in electronic medical records.
Hence, this study highlights that AI may successfully help reduce the burden of a genetic variant of diseases and assist clinicians in the ultimate diagnosis of each case, especially in scenarios where time is of the essence.
Source: Medindia
