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Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis

BACKGROUND: The adoption of massively parallel short‐read DNA sequencing methods has greatly expanded the scope and availability of genetic testing for inherited diseases. Indeed, the power of these methods has encouraged the integration of whole genome sequencing, the most comprehensive single appr...

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Detalles Bibliográficos
Autores principales:	Watson, Christopher M., Holliday, Deborah L., Crinnion, Laura A., Bonthron, David T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305782/ https://www.ncbi.nlm.nih.gov/pubmed/35014072 http://dx.doi.org/10.1002/pd.6089

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