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 include insertions, deletions, and copy number variations—which account for about 20% of diagnoses in the neonatal intensive care unit (NICU).