New computer program 'learns' to identify mosaic mutations that cause disease

Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because they exist in a tiny percentage of the cells. Current DNA mutation software detectors, while scanning the 3 billion bases of the human genome, are not well suited to discern mosaic mutations hiding among normal DNA sequences. Often medical geneticists must review DNA sequences by eye to try to identify or confirm mosaic mutations--a time-consuming endeavor fraught with the possibility of error. Writing in the January 2, 2023, issue of Nature Biotechnology, researchers from the University of California San Diego School of Medicine and Rady Children's Institute for Genomic Medicine describe a method for teaching a computer how to spot mosaic mutations using an artificial intelligence approach termed "deep learning."