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NEJM Report: Next-Gen Gene Sequencing Solves Difficult Rare Infection Case

This article was originally published in The Gray Sheet

Executive Summary

Clinicians used unbiased next-generation gene sequencing of cerebrospinal fluid in a boy with severe immunodeficiency to discover he was infected with a rare bacterial pathogen. The case, published in the New England Journal of Medicine, suggests next-generation sequencing may help doctors treat patients with diseases that cannot be identified through conventional testing, researchers say.


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