NGDC - GSA for Human

HRA000332

HRA000332.xlsx

Title:

DNA methylation detects origin, composition and aneuploidy of cell-free DNA in spent medium for human preimplantation embryos

Release date:

2022-04-12

Description:

The discovery of embryonic cell-free DNA (cfDNA) in spent embryo culture media (SEM) has brought hope for the noninvasive preimplantation genetic testing. However, the cellular origins of SEM cfDNA are not sufficiently understood and methods for determining maternal DNA contamination are limited. Here, we performed whole-genome DNA methylation sequencing for SEM cfDNA (n = 194). Our results demonstrated that SEM cfDNA were derived from blastocysts, cumulus cells and polar bodies. We identified the cumulus-specific differentially methylated regions (C-DMRs, n = 769) and the oocyte/polar body-specific DMRs (O-DMRs, n = 548), and established an algorithm for deducing the cumulus, the polar body and the net maternal DNA contamination ratios in SEM. We showed that DNA methylation sequencing accurately detected chromosome aneuploidy in SEM, and by integrating the origin analysis, it distinguished SEM samples between low and high false negative rate (FNR) and gender discordance rate (GDR).

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA003453

Study type:

Cohort Study

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.:

HDAC000227

DAC name:

Lu Wen

Contact person:

Wen Lu

Email:

wenlu@pku.edu.cn

Description:

NICS

Aspera Command Line