e.g., HRA000087; HRA000150
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HRA006113
   HRA006113.xlsx
Title:
Cell-free DNA methylation sequencing for ultra-early detection of esophageal squamous cell carcinoma and precancerous lesions
Release date:
2023-11-29
Description:
Detecting early-stage esophageal squamous cell carcinoma (ESCC) and precancerous lesions is critical for improving survival. Here, we conducted whole-genome bisulfite sequencing (WGBS) in 460 cfDNA samples of no-metastatic ESCC or precancerous lesions and matched healthy controls from multicenter. We developed an expanded multimodal analysis (EMMA) framework to simultaneously identify cfDNA methylation, copy number variants (CNVs), and fragmentation markers in cfDNA WGBS data. EMMA significantly improved the detection rate, increasing AUCs from 0.90 to 0.99, and detected 87% of ESCCs and 62% of precancerous lesions with >95% specificity in validation cohorts. Our findings demonstrate the potential of multimodal analysis of cfDNA methylome for ultra-early ESCC detection and monitoring of molecular characteristics.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA021338
Study type:
Disease Study
Disease name:
esophageal carcinoma
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC000119
DAC name:
ESCC
Contact person:
Liu Zhihua
Email:
liuzh@cicams.ac.cn
Description:
ESCC WGS study
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Submitter:   Liu Zhihua / liuzh@cicams.ac.cn
Organization:   National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College
Submission date:   2023-11-27
Requests:   17