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

"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."

JO MARTINDALE

Wellington Regional Genetics Laboratory, Wellington, New Zealand

For Research Use Only. Not for Use in Diagnostic Procedures. The information included has been prepared for and is intended for viewing by a global audience. Information about products which may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please consult local sales representatives.

© 2021 SOPHiA GENETICS. All rights reserved. All trademarks are the property of SOPHiA GENETICS and/or its affiliate(s) in the U.S. and/or other countries. All other names, logos, and other trademarks are the property of their respective owners.