Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Abstract The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over the last decade. Direct haplotyping has been successfully applied for NIPD of few single-gene disorders. However, technical issues remain for triplet-repeat expansions. The objective of this study was...

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Principais autores:	C. Liautard-Haag, G. Durif, C. VanGoethem, D. Baux, A. Louis, L. Cayrefourcq, M. Lamairia, M. Willems, C. Zordan, V. Dorian, C. Rooryck, C. Goizet, A. Chaussenot, L. Monteil, P. Calvas, C. Miry, R. Favre, E. Le Boette, M. Fradin, A. F. Roux, M. Cossée, M. Koenig, C. Alix-Panabière, C. Guissart, M. C. Vincent
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2022-07-01
coleção:	Scientific Reports
Acesso em linha:	https://doi.org/10.1038/s41598-022-15307-2
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