Using large scale genetic sequencing has for the first time found the cause of a new illness. Short summary here and full article here. In this situation, an individual had a unique set of symptoms, and by doing a full exome scan for him and his parents they were able to successfully locate the gene that was creating the problem and understand what was going wrong.
Using large scale genetic sequencing has for the first time found the cause of a new illness. Short summary here and full article here. In this situation, an individual had a unique set of symptoms, and by doing a full exome scan for him and his parents they were able to successfully locate the gene that was creating the problem and understand what was going wrong.