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Abstract

Consanguinity and endogamy is common in the Middle East resulting in higher frequency of autosomal recessive genetic disorders, in particular private or rare genetic conditions. Most of these diseases are due to homoallelic state of pathogenic variants, a direct consequence of founder effect and increased co-efficient of inbreeding. Advanced molecular genetic technologies such as next-generation sequencing (NGS) are playing an important role in identifying the genetic basis of rare genetic conditions, specifically when a consanguineous couple has more than one affected child with a rare genetic condition suggestive of autosomal recessive inheritance. The NGS technology is used to sequence the whole genome or whole exome with high accuracy in limited time at a very low cost. There are many platforms available for this technology with slightly different chemistry and variable calling rates. In general, the Qatari population is a highly endogamous population and largely made up of tribal communities with high prevalence of autosomal recessive disorders. The NGS technology will facilitate a promising outcome for unraveling the genetic aetiology of such inherited conditions. However, this technology requires highly trained laboratory geneticists along with bioinformatics support to develop pipelines for data analysis and interpretation, requiring considerable local and international collaborative interactions. In this paper, we will share our experience with collaborative research projects funded by Qatar National Research Fund (QNRF) to transfer and develop these genetic technologies in the State of Qatar, for the investigation of inherited monogenic disorders.

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/content/papers/10.5339/qfarf.2012.BMP3
2012-10-01
2020-07-08
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http://instance.metastore.ingenta.com/content/papers/10.5339/qfarf.2012.BMP3
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