Integrating genetic variants in Middle East, Arab and North African populations towards Precision Medicine

posted Dec 3, 2016, 11:40 PM by Vinod Scaria   [ updated May 20, 2017, 7:01 AM ]

Precision Medicine is a new concept and an emerging model of healthcare where the genetic makeup and its interaction with the environment in incorporated towards enabling prevention, precise diagnosis and prognostication as well as precise treatment and management of a disease or condition.

A number of diseases are quite prevalent in the Arab world. A large part of this is attributed to the widespread practice and norm of consanguinity in the region. Understanding the genetic characteristics of many such diseases would provide the much necessary knowledge to build an effective healthcare system where early screening, early diagnosis and effective management cans significantly reduce the morbidity and mortality due to such diseases.
Middle East and North Africa (MENA) encompass very unique populations, with rich history and encompasses a 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 datasets from this region would provide insights into the landscape of genetic variants in this region.

We have systematically integrated genetic variants from multiple data-sets available from this region to create a compendium of over 26 million genetic variations including over 6 million novel genetic variants.

To the best of our knowledge, al mena is a first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would be the first step to enable Precision Medicine in the region.

Koshy R, Ranawat A, Scaria V.
al mena - a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.
(in communication) 2017
Resource can be accessed at URL
The resource is exclusively for Academic use. 

The work was funded by the Council of Scientific and Industrial Research (CSIR), India through Grant BSC0212 (Wellness Genomics Project).

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