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Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts

Variants of unknown/uncertain significance (VUS) pose a huge dilemma in current genetic variation screening methods and genetic counselling. Driven by methods of next generation sequencing (NGS) such as whole exome sequencing (WES), a plethora of VUS are being detected in research laboratories as we...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Oulas, Anastasis, Minadakis, George, Zachariou, Margarita, Spyrou, George M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6397233/
https://ncbi.nlm.nih.gov/pubmed/30824863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-39796-w
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