Considerations for whole exome sequencing unique to prenatal care
A Abou Tayoun, H Mason-Suares - Human Genetics, 2020 - Springer
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The
emerging data support the clinical utility of prenatal WES based on its diagnostic yield …
emerging data support the clinical utility of prenatal WES based on its diagnostic yield …
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data
SP Smeekens, R Timmermans, D Westra… - Clinical …, 2024 - academic.oup.com
Background Maternal cell contamination (MCC) in prenatal samples poses a risk for
misdiagnosis, and therefore, testing for contamination is necessary during genetic analysis …
misdiagnosis, and therefore, testing for contamination is necessary during genetic analysis …
A prenatal case misunderstood as specimen confusion: 46, XY/46, XY chimerism
L Chen, L Wang, Y Zeng, D Yin, F Tang, D Xie… - BMC Pregnancy and …, 2024 - Springer
Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism
results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than …
results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than …
Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance
With the increasing number of sequencing projects involving families, quality control tools
optimized for family genome sequencing are needed. However, accurately quantifying …
optimized for family genome sequencing are needed. However, accurately quantifying …
高通量测序联合染色体核型检测筛查高龄孕妇胎儿发育畸形的实践研究
赵旭亮， 张曼， 田瑞霞， 崔智慧， 汪鹏程 - 发育医学电子杂志, 2021 - fyyxzz.com
高通量测序联合染色体核型检测筛查高龄孕妇胎儿发育畸形的实践研究 Page 1 《发育医学电子
杂志》2021 年11 月第9 卷第6 期J Dev Med (Electronic Version),Nov. 2021,Vol.9,No.6 ·449· 高 …
杂志》2021 年11 月第9 卷第6 期J Dev Med (Electronic Version),Nov. 2021,Vol.9,No.6 ·449· 高 …