Accession PRJCA010831
Title Validation and depth evaluation of clinical low pass genome sequencing in prenatal diagnosis using 387 amniocentesis samples
Relevance Medical
Data types Whole genome sequencing
Variation
Organisms Homo sapiens
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.
Sample scope Multiisolate
Release date 2023-12-31
Grants
Agency program Grant ID Grant title
No funding support
Submitter Minyue    Dong  (dongmy@zju.edu.cn)
Organization Women's hospital, School of Medicine, Zhejiang University
Submission date 2022-07-27

Project Data

Resource name Description