Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

Abstract Objective To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the N...

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التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Human Genomics
المؤلفون الرئيسيون:	Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang, Aihua Yin
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	BMC 2021-07-01
الموضوعات:	Noninvasive prenatal testing (NIPT) Sequencing depth Copy number variation (CNV) Positive predictive value (PPV)
الوصول للمادة أونلاين:	https://doi.org/10.1186/s40246-021-00332-5