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Article

FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma.

Bioinformatics (Oxford, England) - 15 Nov 2012

Jiang Peiyong, Chan K C Allen, Liao Gary J W, Zheng Yama W L, Leung Tak Y, Chiu Rossa W K, Lo Yuk Ming Dennis, Sun Hao

Abstract excerpt

MOTIVATION: The fractional fetal DNA concentration is one of the critical parameters for non-invasive prenatal diagnosis based on the analysis of DNA in maternal plasma. Massively parallel sequencing (MPS) of DNA in maternal plasma has been demonstrated to be a powerful tool for the non-invasive prenatal diagnosis of fetal chromosomal aneuploidies. With the rapid advance of MPS technologies, the sequencing cost...

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PMID: 22962347
DOI: 10.1093/bioinformatics/bts549

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

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