Dr. Majed Dasouki of King Faisal Specialist Hospital & Research Center, Saudi Arabia is a key member of the team that is characterizing the genomes of the Saudi population to better understand the impact of consanguinity on the incidence of inherited disorders and how next-generation sequencing can be used as a tool for newborn screening.
His team recently published a paper on the development of a comprehensive set of thirteen new inherited disease panels (now available on www.ampliseq.com as community panels) which had a causal variant yield of about 43%, a rate comparable to what they have observed for whole-exome sequencing. At ASHG 2015, he discusses the Saudi Genome Project and the design of these new inherited panels, while providing an answer to the oft-asked question – gene panels or exomes?
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