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Exome sequencing identifies the cause of a Mendelian disorder
We demonstrate the first successful application of exome sequencing to discover the gene for a rare, Mendelian disorder of unknown cause, Miller syndrome (OMIM %263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40X, a...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2847889/ https://ncbi.nlm.nih.gov/pubmed/19915526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.499 |
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