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...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Public Library of Science (PLoS) 2023-01-01
Saila:	PLoS ONE
Sarrera elektronikoa:	https://doi.org/10.1371/journal.pone.0280976
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!