Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals. The power and speed of the innovative bioinformatics tool marks a step toward personalized genomics —discovering causative mutations in individual patients.
Tag Archives | Cell Mutation
A team of researchers have discovered that, on average, thirty mutations are transmitted from each parent to their child, revising previous estimations and revolutionizing the timescale we use to calculate the number of generations separating us from other species. “Your genome, or genetic code, is made up of six billion pieces of information, called nucleotides,” […]
Scientists at the University of Washington (UW) Department of Genome Sciences have identified several sporadic or “de novo” genetic mutations in children with autism spectrum disorder. The researchers applied leading edge molecular biology techniques and massively parallel sequencing to simultaneously examine all of the protein coding portions of the genome, collectively called the exome. The […]
Dutch geneticists affiliated with the Radboud University Nijmegen Medical Centre present as a novel research paradigm that spontaneous mutations are an important cause of mental retardation. The majority of mental retardation is caused by spontaneous mutations in paternal sperm or maternal egg cells. With this conclusion, the Dutch geneticists not only resolve an important paradox, […]