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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Detalles Bibliográficos
Autores principales: Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10124834/
https://www.ncbi.nlm.nih.gov/pubmed/37093806
http://dx.doi.org/10.1371/journal.pone.0280976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10124834/
https://www.ncbi.nlm.nih.gov/pubmed/37093806
http://dx.doi.org/10.1371/journal.pone.0280976

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