Noninvasive prenatal paternity testing using targeted massively parallel sequencing

Noninvasive prenatal paternity testing using targeted massively parallel sequencing
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使用靶向大规模并行测序进行无创产前亲子鉴定

DOI:
10.1111/trf.14577
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发表时间:
2018-07-01
期刊:
影响因子:
2.9
通讯作者:
Ou, Xueling
Ou, Xueling
中科院分区:
医学3区
文献类型:
--
作者:
Ning-Qu;Xie, Yifan;Ou, Xueling

文献摘要

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背景与背景大规模并行测序(MPS)技术的最新进展为无创产前亲子鉴定(NIPAT)提供了有效的方法。然而,尚未制定一项被广泛接受的议定书。本研究开发了一种基于MPS的NIPAT方法,并比较了最近报道的两种MPS数据解释方法的性能。研究设计和方法我们选择了1795个未连锁的多态单核苷酸多态(SNPs),并使用Illumina HiSeq平台对34个真实的亲子鉴定案例进行了亲子鉴定。结果根据每个家系的测序数据,两种统计方法均使亲生父亲与90名无亲缘关系的男性之间存在显著的分离(P
BACKGROUNDRecent advances in massively parallel sequencing (MPS) technology have provided efficient methods for noninvasive prenatal paternity testing (NIPAT). However, a well-accepted protocol has not been established. The present study developed an MPS-based approach for NIPAT and compared the performance of two recently reported methods for MPS data interpretation.STUDY DESIGN AND METHODSWe selected 1795 unlinked polymorphic single-nucleotide polymorphisms (SNPs) and performed paternity analysis in 34 real parentage test cases with maternal plasma samples using the Illumina HiSeq platform. Sequencing data were interpreted by the straightforward counting method for the identification of paternal alleles and mathematical algorithms for paternity index (PI) calculation, respectively.RESULTSBased on the sequencing data from each family case, both of the two statistical approaches produced a significant separation between the biological father and 90 unrelated males (p