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Purpose: An efficient framework to identify disease-associated genes is needed to evaluate genomic data for both individuals with an unknown disease etiology and those undergoing genomic screening. Here, we propose a framework for gene selection used in genomic analyses, including applications limited to genes with strong or established evidence levels and applications including genes with less or emerging evidence of disease association., Methods: We extracted genes with evidence for gene-disease association from the Human Gene Mutation Database, OMIM, and ClinVar to build a comprehensive gene list of 6,145 genes. Next, we applied stringent filters in conjunction with computationally curated evidence (DisGeNET) to create a restrictive list limited to 3,929 genes with stronger disease associations., Results: When compared to manual gene curation efforts, including the Clinical Genome Resource, genes with strong or definitive disease associations are included in both gene lists at high percentages, while genes with limited evidence are largely removed. We further confirmed the utility of this approach in identifying pathogenic and likely pathogenic variants in 45 genomes., Conclusion: Our approach efficiently creates highly sensitive gene lists for genomic applications, while remaining dynamic and updatable, enabling time savings in genomic applications., (© 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.)

Recent advancements have been made in understanding, diagnosing, and treating deafness. In particular, much has been learned from the discovery of a small fraction of the genes responsible for deafness. This understanding will doubtless increase as additional genes are cloned and their functions elucidated. Trailing close behind these achievements will be more clinical advancements facilitating diagnosis of the etiologies of deafness. Integrating these genetic and clinical perspectives is critical to the development of better treatments and interventional strategies for deafness and its associated difficulties. Although opinions toward these advancements are likely to vary between the hearing population and the Deaf community, a growing understanding of the hearing process and how genetic variations result in deafness is ultimately likely to offer benefits to both groups.