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

@inproceedings{Ji2014CombinedEO,
  title={Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness},
  author={Haiting Ji and Jingqiao Lu and Jianjun Wang and Huawei Li and Xi Lin},
  booktitle={BMC ear, nose, and throat disorders},
  year={2014}
}
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… CONTINUE READING