官方服务：
资源简介：
Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing.
应用场景：
创建时间：
2013-03-27
相关数据集
Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis. Duchenne muscular dystrophy linked-read sequencing
For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherit
NIAID Data Ecosystem80
Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia
Background The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequenc
NIAID Data Ecosystem60
Fetal transcripts in maternal blood
The discovery of fetal mRNA transcripts in maternal circulation holds great promise for noninvasive prenatal diagnosis. To identify potential fetal biomarkers, we studied whole blood and plasma transc
NIAID Data Ecosystem40
2016-2021基因组病诊断及产前检测数据北京市数据
数据来源为 国家重点研发计划常见单基因病及基因组病无创产前筛查及诊断技术平台研发及规范化应用体系建立（儿童常见基因组病无创产前诊断规范化平台的建立和推广） （项目编号： 2016YFC1000700（课题编号2016YFC1000707）） 原计划提交1500例，实际提交2000例基因组病数据，采集时间为2016年12月-2021年7月，大小2T。采集地点为北京。对于产检异常且不排除基因组病
国家人口健康科学数据中心60
Haplotype-based noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma sequencing
The aim of this study was to demonstrate the feasibility of the haplotype-based noninvasive method for prenatal diagnosis of congenital adrenal hyperplasia
DataCite Commons2020-10-10 更新50
