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

Peiyong Jiang | Zendy; K.C. Allen Chan | Zendy; Gary J. W. Liao | Zendy; Yama W. L. Zheng | Zendy; Tak Yeung Leung | Zendy; Rossa W. K. Chiu | Zendy; Y. M. Dennis Lo | Zendy; Hao Sun | Zendy

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

Author(s) -

Peiyong Jiang,

K.C. Allen Chan,

Gary J. W. Liao,

Yama W. L. Zheng,

Tak Yeung Leung,

Rossa W. K. Chiu,

Y. M. Dennis Lo,

Hao Sun

Publication year - 2012

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts549

Subject(s) - massive parallel sequencing , fetus , dna , dna sequencing , genotype , cell free fetal dna , prenatal diagnosis , biology , massively parallel , computational biology , genetics , bioinformatics , computer science , pregnancy , gene , parallel computing

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 per base is dramatically reducing, especially when using targeted MPS. Even though several approaches have been developed for deducing the fractional fetal DNA concentration, none of them can be used to deduce the fractional fetal DNA concentration directly from the sequencing data without prior genotype information.

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