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A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
Exome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) i...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326332/ https://www.ncbi.nlm.nih.gov/pubmed/22241780 http://dx.doi.org/10.1093/nar/gkr1257 |