Validation and depth evaluation of clinical low pass genome sequencing in prenatal diagnosis using 387 amniocentesis samples
| Title | Validation and depth evaluation of clinical low pass genome sequencing in prenatal diagnosis using 387 amniocentesis samples |
|---|---|
| Description | We compared the performance of LP GS with CMA in the clinical diagnosis of 376 amniocentesis samples. LP GS is a promising alternative to CMA, and a robust methodology for first-tier diagnosis of pregnant women in real clinical setting. For LP GS, the number of 25 M UAHR may be sufficient for the detection of most aneuploidies, and microdeletions/microduplications. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA010831 |
| Release Date | 2023-12-31 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-07-27 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001404-01 | Overview of sequencing data of 387 amniocentesis samples. | 387 | Other Type of Genomic Data | 46.9 KB | xlsx | 0 | Unavailable |
| OMIX001404-02 | Related data of CNV | 387 | Other Type of Genomic Data | 2.9 MB | xlsx | 0 | Unavailable |