Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Use of animal models for exome prioritization of rare disease genes
por: Smedley, Damian, et al.
Publicado: (2014) -
The influence of disease categories on gene candidate predictions from model organism phenotypes
por: Oellrich, Anika, et al.
Publicado: (2014) -
Disease insights through cross-species phenotype comparisons
por: Haendel, Melissa A., et al.
Publicado: (2015) -
PhenoDigm: analyzing curated annotations to associate animal models with human diseases
por: Smedley, Damian, et al.
Publicado: (2013) -
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
por: Smedley, Damian, et al.
Publicado: (2015)