JAMA Network | JAMA | Metagenomics, Infectious Disease Diagnostics, and Outbreak InvestigationsSequence First, Ask Questions Later?Metagenomics and Infectious Disease Diagnostics

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AMA Network | JAMA | Metagenomics, Infectious Disease Diagnostics, and Outbreak InvestigationsSequence First, Ask Questions Later?Metagenomics and Infectious Disease Diagnostics

Editorial|April 10, 2013

Metagenomics, Infectious Disease Diagnostics, and Outbreak Investigations: Sequence First, Ask Questions Later?

David A. Relman, MD

JAMA. 2013;309(14):1531-1532. doi:10.1001/jama.2013.3678.

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Revolutionary advances in DNA sequencing technology are radically changing the approach for studying and characterizing the microbial world. The sequencing of a microbial genome, which can now be achieved in preliminary form in hours, provides a wealth of information about the functional potential of the organism, its evolutionary relationships with other organisms, and clues about niche adaptation, and without the need for microbial cultivation or isolation.¹ Likewise, so-called shotgun or metagenomic sequencing, which is the high-throughput simultaneous sequencing of random fragments from complex mixes of different genomes, provides insights into the potential activities of a microbial community, possible interactions between microbial community members, and the nature of their relationships with their environment (eg, a human host).