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Identification and validation of loss of function variants in clinical contexts

The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increasingly more important in translational medicine projects and clinical contexts. Within GOSgene, which facilitates genetic analysis as part of a joint effort of the University College London and the Grea...

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Detalles Bibliográficos
Autores principales:	Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Periodicals 2014
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907911/ https://www.ncbi.nlm.nih.gov/pubmed/24498629 http://dx.doi.org/10.1002/mgg3.42

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