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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

BACKGROUND: The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have been a particular focus of many new services. Here we report a cohort of 26 patien...

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Detalles Bibliográficos
Autores principales:	Watson, Christopher M., Crinnion, Laura A., Berry, Ian R., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S., Dobbie, Angus, Carr, Ian M., Bonthron, David T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700600/ https://www.ncbi.nlm.nih.gov/pubmed/26729329 http://dx.doi.org/10.1186/s12881-015-0265-z

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