High-throughput sequencing to decipher the genetic heterogeneity of deafness

作者：Brownstein Zippora; Bhonker Yoni; Avraham Karen B^*

来源：Genome Biology, 2012, 13(5): 245.

DOI：10.1186/gb-2012-13-5-245

• Genomics
• deep sequencing
• massive parallel sequencing
• next-generation sequencing
• exome sequencing
• homozygosity mapping
• hearing loss

Identifying genes causing non-syndromic hearing loss has been challenging using traditional approaches. We describe the impact that high-throughput sequencing approaches are having in discovery of genes related to hearing loss and the implications for clinical diagnosis.

• 出版日期2012