Media Center

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 .



What they say
about Alamut

"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."

JOHN GARCIA, Invitae
San Francisco, USA

Events

15.10.2019

ASHG 2019

USA

15.06.2019

ESHG 2019

Sweden