Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART) | Zendy

Weigang Lv | Zendy; Xianda Wei | Zendy; Ruolan Guo | Zendy; Qin Liu | Zendy; Zheng Yu | Zendy; Jiazhen Chang | Zendy; Ting Bai | Zendy; Haoxian Li | Zendy; Jianguang Zhang | Zendy; Zhuo Song | Zendy; David S. Cram | Zendy; Desheng Liang | Zendy; Lingqian Wu | Zendy

Open Access

Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)

Author(s) -

Weigang Lv,

Xianda Wei,

Ruolan Guo,

Qin Liu,

Zheng Yu,

Jiazhen Chang,

Ting Bai,

Haoxian Li,

Jianguang Zhang,

Zhuo Song,

David S. Cram,

Desheng Liang,

Lingqian Wu

Publication year - 2014

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2014.229328

Subject(s) - sanger sequencing , proband , allele , exome sequencing , genetics , genotype , biology , prenatal diagnosis , pedigree chart , mutation , fetus , gene , computational biology , pregnancy

Noninvasive prenatal testing (NIPT) for monogenic diseases by use of PCR-based strategies requires precise quantification of mutant fetal alleles circulating in the maternal plasma. The study describes the development and validation of a novel assay termed circulating single-molecule amplification and resequencing technology (cSMART) for counting single allelic molecules in plasma. Here we demonstrate the suitability of cSMART for NIPT, with Wilson Disease (WD) as proof of concept.

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