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Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA

Chen, Chao ; Sun, Jun ; Yang, Yun ; [weitere]

Future Science Ltd ; 2020

In: BioTechniques Vol. 68, No. 3 ( 2020-03), p. 117-121

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In: BioTechniques, Future Science Ltd, Vol. 68, No. 3 ( 2020-03), p. 117-121

Kurzfassung: SUMMARY POINTS We propose a haplotype-based noninvasive prenatal diagnosis approach for hemophilia A using a small target region. The genomic DNA of the parents and proband and cell-free DNA of maternal plasma are analyzed by targeted sequencing and maternal pathogenic haplotypes deduced using the genotypes of mother and proband. Then, fetal haplotypes were inferred using a hidden Markov model and Viterbi algorithm.

Materialart: Online-Ressource

ISSN: 0736-6205 , 1940-9818

URL: Article

DOI: 10.2144/btn-2019-0113

Sprache: Englisch

Verlag: Future Science Ltd

Publikationsdatum: 2020

ZDB Id: 1496354-1

SSG: 12