Repository of mutations from Oman: The entry point to a national mutation database [version 1; referees: 3 approved]

The Sultanate of Oman is a rapidly developing Muslim country with well-organized government-funded health care services, and expanding medical genetic facilities. The preservation of tribal structures within the Omani population coupled with geographical isolation has produced unique patterns of rare mutations. In order to provide diagnosticians and researchers with access to an up-to-date resource that will assist them in their daily practice we collated and analyzed all of the Mendelian disease-associated mutations identified in the Omani population. By the 1 of August 2015, the dataset contained 300 mutations detected in over 150 different genes. More than half of the data collected reflect novel genetic variations that were first described in the Omani population, and most disorders with known mutations are inherited in an autosomal recessive fashion. A number of novel Mendelian disease genes have been discovered in Omani nationals, and the corresponding mutations are included here. The current study provides a comprehensive resource of the mutations in the Omani population published in scientific literature or reported through service provision that will be useful for genetic care in Oman and will be a starting point for variation databases as next-generation sequencing technologies are introduced into genetic medicine in Oman. Anna Rajab ( ) Corresponding author: [email protected] Rajab A, Hamza N, Al Harasi S How to cite this article: et al. Repository of mutations from Oman: The entry point to a national mutation 2015, :891 (doi: ) database [version 1; referees: 3 approved] F1000Research 4 10.12688/f1000research.6938.1 © 2015 Rajab A . This is an open access article distributed under the terms of the , which Copyright: et al Creative Commons Attribution Licence permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) declared that no grants were involved in supporting this work. Grant information: Competing interests: The authors declared no competing interests. 23 Sep 2015, :891 (doi: ) First published: 4 10.12688/f1000research.6938.1 1 1 1 1 1 1 1 1 2 2 3