Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.

Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely accepted, but is mostly limited to the exclusion of either paternal or de novo mutations. Indeed, it is still difficult to infer the inheritance of the maternal allele from cell-free DNA (cfDNA) analysis. Based on th...

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Главные авторы:	Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Public Library of Science (PLoS) 2023-01-01
Серии:	PLoS ONE
Online-ссылка:	https://doi.org/10.1371/journal.pone.0280976
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