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. 2015 Nov 12;6(11):e124. doi: 10.1038/ctg.2015.46

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Copyright © 2015 American College of Gastroenterology

Clinical and Translational Gastroenterology is an open-access journal published by Nature Publishing Group. This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

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Schematic for evaluating Mendelian and complex disorders. Genetic testing for Mendelian disorders is a well-established discipline with the ultimate goal of identifying, confirming, or ruling out a highly penetrant genetic disorder. In complex disorders, genetic information using single-nucleotide polymorphism (SNP) arrays or next generation sequencing (NGS) panels are combined with other risk factors and markers within a disease model to classify patients based on disease mechanism. The actionable result(s) lead to better management of the patient based on targeted therapies and avoiding adverse outcomes.