For children suffering from rare diseases, it usually takes years to receive a diagnosis. This “diagnostic odyssey” is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious and debilitating symptoms.
A new speed record in DNA sequencing may soon help families more quickly find...
A complete human genome, seen here in pairs of chromosomes, offers a wealth of information, but it is hard connect genetics to traits or disease. HYanWong/Wikimedia Commons
Xavier Bofill De Ros, National Institutes of Health
The first draft of the human genome was published 20 years ago in 2001, took nearly three years and cost...