by dparker

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.

Worthey EA.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 9.24.. doi: 10.1002/0471142905.hg0924s79.

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP.

Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158.