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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Detalhes bibliográficos
Main Authors: Ng, Sarah B., Buckingham, Kati J., Lee, Choli, Bigham, Abigail W., Tabor, Holly K., Dent, Karin M., Huff, Chad D., Shannon, Paul T., Jabs, Ethylin Wang, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha: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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