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Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
Whole exome sequencing has altered the way in which rare diseases are diagnosed and disease genes identified. Hundreds of novel disease-associated genes have been characterized by whole exome sequencing in the past five years, yet the identification of disease-causing mutations is often challenging...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520011/ https://www.ncbi.nlm.nih.gov/pubmed/26229552 http://dx.doi.org/10.1186/s13073-015-0199-2 |