Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders

A relative haplotype dosage (RHDO)–based method was developed and implemented into routine clinical practice for noninvasive prenatal diagnosis (NIPD) of multiple single-gene disorders: spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and cystic fibrosis. This article describes the...

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Publicado en:J Mol Diagn
Main Authors: Young, Elizabeth, Bowns, Benjamin, Gerrish, Amy, Parks, Michael, Court, Samantha, Clokie, Samuel, Mashayamombe-Wolfgarten, Chipo, Hewitt, Julie, Williams, Denise, Cole, Trevor, Allen, Stephanie
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Investigative Pathology 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7471768/
https://ncbi.nlm.nih.gov/pubmed/32553884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2020.06.001
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