Identification of disease genes through next-generation sequencing

Next-generation sequencing (NGS) is a revolutionizing technique for the identification of disease-causing genes. In this project, we attempt to identify the disease-causing mutation in 2 families with autosomal recessive forms of nonsyndromic deafness, in which a narrow candidate region has been delineated by linkage analysis. To obtain a successful gene identification, a thorough screening of these regions will be done using NGS techniques.

Keywords:MUTATION ANALYSIS, DNA SEQUENCING, GENETIC DEAFNESS

Disciplines:Genetics, Systems biology, Molecular and cell biology, Otorhinolaryngology, Speech, language and hearing sciences