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Sommen, Manou et al. Human Mutation.

Sommen, Manou et al. Human Mutation. 2016 Apr

Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes for nonsyndromic hearing loss (NSH)L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western-European population are TMC1, MYO15A, and MYO7A .

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"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."


Wellington Regional Genetics Laboratory, Wellington, New Zealand