Causative gene of rare disorder discovered by sequencing only protein-coding regions of genome

More that 7,000 rare disorders in aggregate affect millions of people. Researchers have now shown that it may be possible to more quickly identify the causative gene for many of these disorders by sequencing only the protein-coding regions of the genome. This can be done on unrelated individuals, thereby avoiding the need for large families for such studies. Results show that exome-sequencing might help identify the genetic cause of thousands of disorders.

Read the whole article on Science Daily

More from Science Daily