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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912424/
https://www.ncbi.nlm.nih.gov/pubmed/24162188
http://dx.doi.org/10.1101/gr.160325.113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912424/
https://www.ncbi.nlm.nih.gov/pubmed/24162188
http://dx.doi.org/10.1101/gr.160325.113

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