Article
Exome sequencing identifies the cause of a mendelian disorder.
Nature genetics - 1 Jan 2010
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
Abstract excerpt
We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40x and sufficient depth to call variants at approximately 97% of each targeted exome. Filtering against public SNP databases...
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