Improved exome prioritization of disease genes through cross-species phenotype comparison

Numerous new disease-gene associations have been identified by whole-exome sequencing studies in the last few years. However, many cases remain unsolved due to the sheer number of candidate variants remaining after common filtering strategies such as removing low quality and common variants and thos...

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Autors principals: Robinson, Peter N., Köhler, Sebastian, Oellrich, Anika, Wang, Kai, Mungall, Christopher J., Lewis, Suzanna E., Washington, Nicole, Bauer, Sebastian, Seelow, Dominik, Krawitz, Peter, Gilissen, Christian, Haendel, Melissa, Smedley, Damian
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3912424/
https://ncbi.nlm.nih.gov/pubmed/24162188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.160325.113
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