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Review ArticleFrontiers in MedicineFree Preview

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

List of authors.
  • 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.

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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.

Author Affiliations

From the Department of Genome Sciences, University of Washington School of Medicine, and the Howard Hughes Medical Institute, University of Washington, Seattle.

Address reprint requests to Dr. Eichler at the Department of Genome Sciences, University of Washington School of Medicine, Foege S-413A, Box 355065, 3720 15th Ave. NE, Seattle, WA 98195-5065, or at .

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