Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis

For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherited allele. Until recently, the proband-based indirect haplotyping method has been preferred despite...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Jang, Se Song, Lim, Byung Chan, Yoo, Seong-Keun, Shin, Jong-Yeon, Kim, Ki-Joong, Seo, Jeong-Sun, Kim, Jong-Il, Chae, Jong Hee
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5989205/
https://ncbi.nlm.nih.gov/pubmed/29875376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26941-0
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