Exome-Sequencing Might Help Identify Genetic Cause Of Thousands Of Disorders
For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder. Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein...
by Raelene
