Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluids.

ABSTRACT:

Background

Metagenomic next-generation sequencing (mNGS) of body fluids is an emerging approach to identify occult pathogens in undiagnosed patients. We hypothesized that metagenomic testing can be simultaneously used to detect malignant neoplasms in addition to infectious pathogens.

Methods

From two independent studies (n = 205), we used human data generated from a metagenomic sequencing pipeline to simultaneously screen for malignancies by copy number variation (CNV) detection. In the first case-control study, we analyzed body fluid samples (n = 124) from patients with a clinical diagnosis of either malignancy (positive cases, n = 65) or infection (negative controls, n = 59). In a second verification cohort, we analyzed a series of consecutive cases (n = 81) sent to cytolo

SUBMITTER: Gu W 

PROVIDER: S-EPMC8167833 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature