Deep learning tool identifies mosaic mutations that cause disease

Study: Control-independent mosaic single nucleotide variant detection with DeepMosaic. Image Credit: Laurent T / Shutterstock

Genetic mutations cause hundreds of unresolved 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. While scanning the 3 billion bases of the human genome, current DNA mutation software detectors are not well … Read more