1. Comprehensive Diagnostic Testing for Stereocilin
Diana Mandelker, Sami S. Amr, Trevor Pugh, Sivakumar Gowrisankar, Rimma Shakhbatyan, Elizabeth Duffy, Mark Bowser, Bryan Harrison, Katherine Lafferty, Lisa Mahanta, Heidi L. Rehm, Birgit H. Funke 
The Journal of Molecular Diagnostics 
Volume 16, Issue 6, Pages (November 2014)
DOI: /j.jmoldx
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2. Figure 1
Schematic of STRC and location of variants. Black boxes indicate exons with 100% identity to pSTRC. Gray boxes indicate exons with divergent base pairs. Variants detected in this study are presented above the schematic (variants detected in trans- to a heterozygous deletion of STRC are indicated in bold). Disease mutations (Human Gene Mutation Database Professional, Cardiff, UK; last accessed December 2013; registration required) are diagrammed below. The asterisks denote variants confirmed as STRC copy specific and meeting the criteria for classification as pathogenic. Gray bars represent STRC deletions (deleted exons are indicated within).
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

3. Figure 2
Effect of highly homologous regions on NGS mapping quality for genes associated with hearing loss. Mapping quality plots for OTOA and STRC on the basis of whole exome sequence data with 100-bp paired end reads. The dashed line marks a mapping quality of 30. The percentage of the coding sequence with mapping quality values <30 is shown on the right.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

4. Figure 3
Unique LR-PCR amplification of STRC eliminates pseudogene contamination. The STRC gene (top) and the effect of using STRC-specific LR-PCR products (bottom). Left: Standard NGS and LR-PCR NGS for a sample carrying a heterozygous STRC deletion. In the standard NGS assay, pseudogene contamination is evident from an allelic fraction of 0.69, whereas the LR-PCR NGS reaction yielded the expected allelic fraction of 1.0. Right: Sanger sequencing by using standard PCR products and LR-PCR product. Double peaks in the standard PCR-based trace indicate pseudogene contamination, which is eliminated when using a LR-PCR product.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

5. Figure 4
Comprehensive STRC clinical testing workflow for nonsyndromic hearing loss testing. After DNA extraction, NGS is performed on each sample for a 70-gene panel. CNV calls are made with an in-house algorithm (VisCap) and are confirmed with a STRC-specific ddPCR assay. SNVs and small indel calls are confirmed with a STRC-specific long-range PCR sequencing assay (either Sanger sequencing or NGS). The data are combined to arrive at a STRC-specific genotype.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

6. Figure 5
STRC sequencing and copy number detection increases the clinical sensitivity of genetic testing for NSHL.
The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx )
Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions