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Author Notes:

E-mail Address : jwang33@emory.edu E-mail Address : xlin2@emory.edu

HTJ conducted molecular genetic experiments, qPCR studies, analyzed and summarized the data, and wrote the paper. JQL performed sequence alignment, analyzed and summarized the data, and wrote part of the paper. JJW conducted experiments and analyzed molecular biology data.

HWL participated in study coordination, analyzed data, and wrote part of the paper. XL conceived the study idea, participated in its design and coordination, conducted experiments, analyzed and summarized the data, and wrote the paper. All authors read and approved the final manuscript.

We thank Ms. Anne Lin for proofreading the final version of the manuscript.

The authors declare no conflicting financial and non-financial (e.g., political, personal, religious, academic, commercial or any other) interests.


Research Funding:

This study was supported by grants to Lin from the National Institute on Deafness and other Communication Disorders (NIDCD 4R33DC010476 and RO1DC006483).

Huawei Li received grant support from the National Science Foundation of China (#30728029 and #81230019) and the 973 program (2011CB504506). Lin and Li also received grant support from the National Science Foundation of China (30728029).


  • Copy number variations
  • Deafness gene panel
  • Genetic deafness
  • Hearing
  • Next-generation sequencing
  • Sequence mutations

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

Journal Title:

BMC Ear, Nose and Throat Disorders


Volume 14, Number 1


, Pages 9-9

Type of Work:

Article | Final Publisher PDF


Background: Copy number variations (CNVs) are the major type of structural variation in the human genome, and are more common than DNA sequence variations in populations. CNVs are important factors for human genetic and phenotypic diversity. Many CNVs have been associated with either resistance to diseases or identified as the cause of diseases. Currently little is known about the role of CNVs in causing deafness. CNVs are currently not analyzed by conventional genetic analysis methods to study deafness. Here we detected both DNA sequence variations and CNVs affecting 80 genes known to be required for normal hearing.

Copyright information:

© 2014 Ji et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits distribution, public display, and publicly performance, making multiple copies, distribution of derivative works, provided the original work is properly cited. This license requires copyright and license notices be kept intact, credit be given to copyright holder and/or author.

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