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Avoiding Pitfalls in Molecular Genetic Testing

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1 Avoiding Pitfalls in Molecular Genetic Testing
Michael Joseph Kluk, Yu An, Philip James, David Coulter, David Harris, Bai-Lin Wu, Yiping Shen  The Journal of Molecular Diagnostics  Volume 13, Issue 3, Pages (May 2011) DOI: /j.jmoldx Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 A: The height and weight of the individual in case 1 were plotted in the standard growth curve for boys. B: The height and weight of the individual in case 2 were plotted in the standard growth curve for girls. Growth charts were obtained from the CDC website: last accessed November 2010. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3 Figure 2 Top and middle: custom tracks showing the oligonucleotide array data that show the size and position of the deletions in the two cases (top, case 1; middle, case 2); the shaded regions are the deleted regions identified by the CGH analytic software. Each dot indicates an individual oligonucleotide probe. The relative positions of the ZEB2 and GTDC1 genes are shown with respect to the shaded deleted regions. Bottom: genome browser view of the data that shows the relative size and positions of the deletions. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions


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