Help from a model organism in Genome Biology’s special issue on exome sequencing

In a special issue of Genome Biology focusing on exome sequencing published online today , an article by Karen Avraham and colleagues identifies the genes responsible for hereditary deafness in Jewish Israeli and Palestinian Arab populations.

Most early onset hearing loss is genetic. However, the genes that are involved in this hereditary hearing loss are many and are specific to different populations, making the identification of human hearing loss genes a complex problem. The development of a screen for these genetic mutations would not only aid in the accurate diagnosis of hereditary hearing loss, but also will allow further mutations to be identified in different populations.

Karen Avraham and colleagues identify genes associated with deafness in Jewish Israeli and Palestinian Arab populations using a novel screening approach. To probe for hearing loss genes the authors used known human hereditary hearing loss genes as bait and then sequenced the genes that they captured to identify mutations in the populations.  As additional bait, the authors also used the human houmolog of mouse genes that had previously been shown to be involved in hearing loss. They applied this approach in 11 individuals of Jewish Israeli and Palestinian Arab origin. They identified multiple mutations responsible for hearing loss and so by broadening their approach to include clues from one of our best researched model organisms, the authors now have a tool for diagnosis and researching hereditary deafness.

The special issue of Genome Biology is guest edited by Jay Shendure, his editorial includes an overview of exome sequencing development and future directions. The issue also includes other reviews and opinions from leaders in the field and articles applying exome sequencing. To find out more about what the issue contains, please do read my editorial– we’re very excited about this issue. Printed editions will be available at Beyond the Genome and the International Congress of Human Genetics conferences.

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