Exome sequencing gets to the root of rare diseases | Viruses and Bioinformatics from Virology.uvic.ca | Scoop.it

Sequencing the protein-coding portion of the genome has helped diagnose the cause of rare disorders and could even predict diseases.


IT'S not quite the long-heralded $1000 genome, but it is getting close. For the first time, doctors have begun rolling out large-scale sequencing of the protein-coding portion of people's genome. This could help to identify the causes of conditions such as congenital deafness and some learning disabilities. More common diseases are expected to follow. The hope is that such sequencing will improve treatments, determine how a person might respond to a drug and possibly even predict disease before it starts.



Via Dr. Stefan Gruenwald