Finding the needle in a genomic haystack

Researchers have identified a genomic mutation that causes physical abnormalities and developmental delays in children. Upon analyzing the genome of a six-year-old boy, the scientists identified a novel mutation that affects a protein known as CASK, which is key to brain development and the signals transmitted by brain cells, or neurons….

Researchers have identified a genomic mutation that causes physical abnormalities and developmental delays in children. Upon analyzing the genome of a six-year-old boy, the scientists identified a novel mutation that affects a protein known as CASK, which is key to brain development and the signals transmitted by brain cells, or neurons….