Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Abstract Background Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment. Methods Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags and weighting algorithm and applied i...

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Bibliographic Details
Main Authors: Dai Peng, Zhao Ganye, Sun Gege, Xia Yanjie, Liu Ning, Kong Xiangdong
Format: Article
Language:English
Published: BMC 2021-12-01
Series:BMC Medical Genomics
Subjects:
Phenylketonuria
Non-invasive prenatal diagnosis
Haplotype
Weighting algorithm
Paired-end molecular tags
Online Access:https://doi.org/10.1186/s12920-021-01141-4

Internet

https://doi.org/10.1186/s12920-021-01141-4

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