Completion of the human genome project in 2003 and availability of the human genome sequence to the scientific community are important landmarks in the field of human genetics. Since then, by introducing new technologies such as microarray genotyping and next generation sequencing to the field, several human genome variation databases such as International HapMap, 1000 Genomes, NHLBI Exome, UK10K, ExAC and finally Genome Aggregation databases were made available to researchers worldwide. Human genome variation databases like these have been playing a crucial role in interpreting genetic variations in the human genome and understanding the genetic of human disorders. However, many ethnic groups are not represented in current human genome variation databases. It is well known that many human genome variations are ethnicity-specific and we can not build a complete picture of genetic variations in the human genome without having representatives from all different ethnic groups in those databases. In addition, lack of representatives from specific populations and ethnic groups in human genome databases may lead to marginalization of members of those populations, which might put them in danger of discrimination by depriving them of the benefits of new advances in genetic technologies and its associated medical advances. So from an ethical point of view, this project improves health equity at a national and global level.
Access to clinical genetic testing has been growing continuously worldwide since the introduction of next generation sequencing technology to the field of genetics about a decade ago. Widespread access to genetic testing will have a remarkable impact on realizing the vision of precision medicine to improve the prevention, diagnosis and treatment of human disorders, many of which have a genetic etiology. The benefits of precision medicine may not be realized for those groups who are not represented in current human genomic variation databases. With this in mind, the co-principal investigators on this project, from the Genetics Research Center (GRC) at the University of Social Welfare & Rehabilitation Sciences, Tehran, Iran and Dalla Lana School of Public Health at University of Toronto, Toronto, Ontario, Canada decided to establish the Iranome database (www.iranome.com) by performing whole exome sequencing on 800 individuals from eight major ethnic groups in Iran. The groups included 100 healthy individuals from each of the following ethnic groups: Arabs, Azeris, Balochs, Kurds, Lurs, Persians, Persian Gulf Islanders and Turkmen. They represent over 80 million Iranians and to some degree half a billion individuals who live in the Middle East, a region with rapid population growth expectations for the future (MENA Policy Brief, 2001). These ethnic groups are among the most underrepresented populations in currently available human genomic variation databases. Some basic clinical information has been recorded for each patient. For more details please check table 1 at the bottom of this page.
The Iranome Browser uses the open source code made initially for the ExAC browser by the laboratory of Dr. Daniel G. MacArthur at Broad Institute of MIT and Harvard Universities, Cambridge, Massachusetts, USA with some modifications made to it by Golden Helix Inc., Bozeman, Montana, USA. For more details please see the FAQ tab.
The list of investigators and organizations who have contributed to this project include:
Table 1: Detailed information examined for each participant in the study