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Article

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

Scientific reports - 6 Jun 2018

Jang Se Song, Lim Byung Chan, Yoo Seong-Keun, Shin Jong-Yeon, Kim Ki-Joong, Seo Jeong-Sun, Kim Jong-Il, Chae Jong Hee

Abstract excerpt

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 its limitations for use in clinical practice. Here, we describe a method for directly determining the maternal...

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Identifiers

PMID: 29875376
DOI: 10.1038/s41598-018-26941-0
PMCID: PMC5989205

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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