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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Publicado en:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4700600/
https://ncbi.nlm.nih.gov/pubmed/26729329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0265-z
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