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Article

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.

Clinical chemistry - 1 Apr 2018

Mao Qing, Chin Robert, Xie Weiwei, Deng Yuqing, Zhang Wenwei, Xu Huixin, Zhang Rebecca Yu, Shi Quan, Peters Erin E, Gulbahce Natali, Li Zhenyu, Chen Fang, Drmanac Radoje, Peters Brock A

Abstract excerpt

BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an...

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Source

Identifiers

PMID: 29545257
DOI: 10.1373/clinchem.2017.281220

Genes

CHD8
LRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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