DNA sequencing

Scientists reconstruct first complete genome of a living person

Scientists have reconstructed the complete genome of a living person for the first time, capturing full sets of chromosomes from each parent in a achievement that researchers say will make personalized genomics routine in medical care. The advance, published Thursday…

New DNA test can replace 15 others for rare diseases

Researchers at Radboud University Medical Center have published a study in the New England Journal of Medicine recommending that a new long-read genome sequencing test become the global first-choice diagnostic for rare genetic disorders. The test, which reads DNA segments…