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Article

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.

Clinical chemistry - 1 Feb 2017

Hui Winnie W I, Jiang Peiyong, Tong Yu K, Lee Wing-Shan, Cheng Yvonne K Y, New Maria I, Kadir Rezan A, Chan K C Allen, Leung Tak Y, Lo Y M Dennis, Chiu Rossa W K

Abstract excerpt

BACKGROUND: Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27932412
DOI: 10.1373/clinchem.2016.268375

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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