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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.
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2011
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3308044/ https://ncbi.nlm.nih.gov/pubmed/21920049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gb-2011-12-9-228 |
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