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Diagnosis of cytomegalovirus infection from clinical whole genome sequencing.


ABSTRACT: Rapid whole genome sequencing (rWGS) of peripheral blood has been used to detect microbial DNA in acute infections. Cytomegalovirus (CMV) is a herpesvirus capable of causing severe disease in neonates and immunocompromised patients. We identified CMV in patients undergoing diagnostic rWGS by matching reads that did not align to the human reference genome to a database of microbial genomes. rWGS was conducted on peripheral blood obtained from ill pediatric patients (age 1 day to 18 years). Reads not aligning to the human genome were analyzed using an in-house pipeline to identify DNA consistent with CMV infection. Of 669 patients who received rWGS from July 2016 through July 2019, we identified 28 patients (4.2%) with reads that aligned to the CMV reference genome. Six of these patients had clinical findings consistent with symptomatic CMV infection. Positive results were highly correlated (R2?>?0.99, p?

SUBMITTER: Ramchandar N 

PROVIDER: S-EPMC7335102 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Diagnosis of cytomegalovirus infection from clinical whole genome sequencing.

Ramchandar Nanda N   Ding Yan Y   Farnaes Lauge L   Dimmock David D   Hobbs Charlotte C   Kingsmore Stephen F SF   Bainbridge Matthew M  

Scientific reports 20200703 1


Rapid whole genome sequencing (rWGS) of peripheral blood has been used to detect microbial DNA in acute infections. Cytomegalovirus (CMV) is a herpesvirus capable of causing severe disease in neonates and immunocompromised patients. We identified CMV in patients undergoing diagnostic rWGS by matching reads that did not align to the human reference genome to a database of microbial genomes. rWGS was conducted on peripheral blood obtained from ill pediatric patients (age 1 day to 18 years). Reads  ...[more]

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