New England Journal of Medicine
July 4, 2019 Vol. 381 No. 1
Frontiers in Medicine: Genetic Variation, Comparative Genomics, and the Diagnosis of Disease
Evan E. Eichler, Ph.D.
The genome is not akin to a string of fixed length. Many large segments of DNA may be present or absent — a major contributor to pathogenic genomic variation. New technologies in DNA sequencing are helping to uncover this type of variation, which often cannot be detected by standard DNA sequencing.