Dr. Rick at the DNA Dude blog discusses Jay Shendure and Debbie Nickerson’s paper in this month’s Nature Genetics on identifying the gene for a rare Mendelian disorder called Miller syndrome using exome sequencing. Dr. Rick says that whole genome sequencing is “over-kill” and “provides little useful information in the way of medical genetics.” He adds that “the exome filtering technique provides an exciting model for future studies of rare Mendelian disorders. It’s likely a key step in the long development of personalized medicine.”
Premium Trial: