This article is available to subscribers. Subscribe now. Already have an account? Sign in
Review ArticleFrontiers in MedicineFree Preview
Genetic Variation, Comparative Genomics, and the Diagnosis of DiseaseList of authors.
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.
Funding and Disclosures
Disclosure forms provided by the author are available with the full text of this article at NEJM.org.
This article was updated on October 10, 2019, at NEJM.org.
Print Subscriber? Activate your online access.