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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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Detalhes bibliográficos
Main Authors: Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3907911/
https://ncbi.nlm.nih.gov/pubmed/24498629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.42
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