Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
| Title | Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples |
|---|---|
| Description | We compared the performance of LP GS with CMA on 375 samples of amniotic fluid, evaluated the effect of sequencing depth on the performance by downsampling, and then re-evaluated the performance of LP GS in prenatal diagnosis with optimized UAHR |
| Organism | Homo sapiens |
| Data Type | Clinical Research data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA011811 |
| Release Date | 2023-09-13 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-09-13 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001825-01 | Overview of sequencing data of 387 amniocentesis samples. | 387 | Clinical Research data | 3.0 MB | xlsx | 0 | Controlled |
| OMIX001825-02 | Flowchart of the study design | 387 | Clinical Research data | 1.1 MB | tif | 0 | Controlled |
| OMIX001825-03 | Validation of the discordant pathogenic CNV detected by CMA and LP GS | 387 | Clinical Research data | 460.3 KB | tif | 0 | Controlled |
| OMIX001825-04 | Depth evaluation of LP GS | 387 | Clinical Research data | 545.6 KB | tif | 0 | Controlled |
| OMIX001825-05 | The overall detection sensitivity of LP GS for 125 samples with concordant positive results (10 aneuploids and 145 CNVs) | 125 | Clinical Research data | 248.3 KB | tif | 0 | Controlled |
| OMIX001825-06 | Median number of CNVs to be interpreted | 387 | Clinical Research data | 220.7 KB | tif | 0 | Controlled |