A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism’s complex genetic causation. The study for the first time estimates the minimum number of locations in the human genome – 250 to 300 – where gene copy number variation (CNV) […]
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 […]
Recent Comments