It was exactly the kind of medical mystery that has yielded to genome sequencing. From age 7, Ricky Ramon’s body had sprouted tumor after (non-cancerous) tumor: in his heart and his pituitary gland, his adrenal glands and his thyroid. Those symptoms seemed to fit a rare genetic disease called Carney complex, which is caused by mutations in the PRKAR1A gene on chromosome 17. But standard DNA sequencing found no disease-causing glitches there or anywhere.
When Ricky was 25, however, researchers at the Stanford University School of Medicine used a cutting-edge technology called long-read sequencing to crack the case. It is the first time that long read, whole genome sequencing has been used to diagnose a patient, Stanford genetics professor Dr. Euan Ashley and his colleagues reported on Thursday in the journal Genetics in Medicine.
While that breakthrough is unlikely to persuade many other clinicians or even basic researchers to abandon the short-read DNA sequencing technology sold by industry-leading Illumina and other companies, it underlines a little-known fact: short reads cannot sequence an entire genome. That’s why the human genome was not (popular wisdom notwithstanding) ever completely sequenced.
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