al MENA

NAR Molecular Biology Database Collection entry number 1994

http://clingen.igib.res.in/almena/

Remya Koshy, Anop Ranawat, Vinod Scaria

The Academy of Scientific and Innovative Research (AcSIR), CSIR-Institute of Genomics and Integrative Biology, Delhi, India

Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations. The variants were systematically annotated and their allele frequencies in the data sets were computed and available as a web interface which enables quick query. As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis. Our analysis revealed that the carrier frequency of selected variants differed widely with significant interethnic differences. To the best of our knowledge, al mena is the first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would accelerate Precision Medicine in the region.

Rodriguez-Flores, J. L., Fakhro, K., Hackett, N. R., et al. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar. Human Mutation(2014)
Rodriguez-Flores, J. L., Fakhro, K., Agosto-Perez, F., et al. Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations. Genome Research(2016)
Fakhro, K. A., Staudt, M. R., Ramstetter, M. D., et al. The Qatar genome: a population-specific tool for precision medicine in the Middle East. Human genome variation(2016)
Ozcelik, T. and Onat, O. E. Genomic landscape of the Greater Middle East. Nature Genetics(2016)

http://metagenomics.iiserb.ac.in/biofueldb

Oxford University Press is not responsible for the content of external internet sites