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Article

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.

Journal of human genetics - 1 Nov 2018

Yin Xiuju, Du Yang, Zhang Han, Wang Zhandong, Wang Juan, Fu Xinxin, Cui Yaoyao, Chen Chongjian, Liang Junbin, Xuan Zhaoling, Zhang Xiaohong

Abstract excerpt

Noninvasive prenatal testing (NIPT), which involves analysis of circulating cell-free fetal DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental chromosome aneuploidy. However, recent studies suggested that coverage-based shallow-depth NIPT cannot accurately detect smaller single or multi-loci genetic variants. To assess the fetal genotype of any locus using maternal plasma, we...

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PMID: 30131598
DOI: 10.1038/s10038-018-0489-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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