Genetic variation, comparative genomics, and the diagnosis of disease
EE Eichler - New England Journal of Medicine, 2019 - Mass Medical Soc
New England Journal of Medicine, 2019•Mass Medical Soc
Uncharted Regions of the Human Genome 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.
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.
Uncharted Regions of the Human Genome
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.
The New England Journal Of Medicine