Ion AmpliSeq™ Hearing Loss Research Panel v1  Hide Panel Description

Because of the extreme genetic heterogeneity of deafness, interpreting genetic information is difficult. Research using targeted exon sequencing by massively parallel DNA sequencing is a powerful strategy to discover rare variants in genes associated with Mendelian disorders such as deafness. This panel was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with hearing loss. The panel assesses 63 genes known to mutations causal of hearing, which we routinely screen with the Invader method and Taqman® method. We obtained very high sensitivity and specificity with this panel in a study of more than 100 archived samples. For further details see Miyagawa et al, Plos One 2013.

Design Date April 2013 Publication: Miyagawa et al, Plos One 2013
Author: Maiko Miyagawa, Shinya Nishio, Takuo Ikeda, Kunihiro Fukushima and Shin-ichi Usami
Affiliation: Shinshu University
Recommended Application Germ line mutation detection Recommended Configuration Sample per Chip: 6–8 per 318 chip
Minimum coverage: 100x
* average coverage was 248.7x for 6 sample per 318 chip
Sample Type Genome DNA
Number of sample in Publication ~100 samples (included previous panel) Observed Performance Average panel uniformity: 95.6%
Reads on-targets: 90.7%
* average of 100 trial samples
Input DNA required 10ng per tube
Disease Research Area: Hearing loss
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • 1: 1036 amplicons | 2: 1028 amplicons
  • 294.81 Kb
  • Panel Size