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Unlocking Mendelian disease using exome sequencing
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308044/ https://www.ncbi.nlm.nih.gov/pubmed/21920049 http://dx.doi.org/10.1186/gb-2011-12-9-228 |