Workflow from Scientific Research

Schematic illustrations showing the pathogenic variant that deletes exons in CLCNKA in the probands (top). The genomic regions corresponding to each variant are visualized using the Integrative Genomics Viewer (bottom). The detailed reconstruction of the CLCNKA deletion, including nearby copy-number variations, is illustrated in Figure S10. SNHL, sensorineural hearing loss; SNV, single-nucleotide variant; indel, insertion/deletion; SV, structural variation.

DOI