- Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseElizabeth A Worthey
Human and Molecular Genetics Center, The Medical College of Wisconsin, Milwaukee 53226, USA
Genet Med 13:255-62. 2011..The age and severity of the presentation suggested an underlying immune defect; however, despite comprehensive clinical evaluation, we were unable to arrive at a definitive diagnosis, thereby restricting clinical management...
- The Rat Genome Database 2009: variation, ontologies and pathwaysMelinda R Dwinell
Department of Physiology and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA
Nucleic Acids Res 37:D744-9. 2009..By curating, storing, integrating, visualizing and promoting rat data, RGD ensures that the investment made into rat genomics and genetics can be leveraged by all interested investigators...
- Sequencing of the rat genome and databasesElizabeth A Worthey
Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA
Methods Mol Biol 597:33-53. 2010..This chapter is designed to overview the existing sequence and its utility, as well as provide a glimpse of some of the databases and bioinformatic tools available to the investigator...