The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Open accessAbstract
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of HL. As one of its major tasks, our Expert Panel has adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants in HL genes. Here, we provide a comprehensive illustration of the newly specified ACMG/AMP HL rules. Three rules remained unchanged, four rules were removed, and the remaining 21 rules were specified. These rules were further validated and refined using a pilot set of 51 variants assessed by curators and disease experts. Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or aggregation of evidence across laboratories. These HL-specific ACMG/AMP rules will help standardize variant interpretation, ultimately leading to better care for individuals with HL.
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Self-citationModeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Tavtigian, S. V., Greenblatt, M. S., Harrison, S. M., Nussbaum, R. L., Prabhu, S. A., Boucher, K. M., & Biesecker, L. G. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.210 · Cited by 590
Using high-resolution variant frequencies to empower clinical genome interpretation
Whiffin, N., Minikel, E., Walsh, R., O’Donnell-Luria, A. H., Karczewski, K., Ing, A. Y., Barton, P. J. R., Funke, B., Cook, S. A., MacArthur, D., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.26 · Cited by 441 · cited 1×
“Our calculations were made under assumption of Hardy-Weinberg equilibrium and can be obtained using a recently published web application (https://www.cardiodb.org/allelefrequencyapp/)(Whiffin et al., 2017).”
MethodEvaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Ghosh, R., Oak, N., & Plon, S. E. (2017) · Genome biology · doi:10.1186/s13059-017-1353-5 · Cited by 233
Cited by
Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00821-0 · Cited by 15
Rowlands, C. F., Allen, S., Garrett, A., Durkie, M., Burghel, G. J., Robinson, R., Callaway, A., Field, J., Frugtniet, B., Palmer-Smith, S., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.08.014 · Cited by 6
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss
Namba, K., Mutai, H., Matsunaga, T., & Kaneko, H. (2024) · BMC Research Notes · doi:10.1186/s13104-024-06793-w · Cited by 3
Metadata
- Authors
- Oza, A. M., DiStefano, M. T., Hemphill, S. E., Cushman, B. J., Grant, A. R., Siegert, R. K., Shen, J., Chapin, A., Boczek, N. J., Schimmenti, L. A., Murry, J. B., Hasadsri, L., Nara, K., Kenna, M., Booth, K. T., Azaiez, H., Griffith, A., Avraham, K. B., Kremer, H., Rehm, H. L., Amr, S. S., Abou Tayoun, A. N., & ClinGen Hearing Loss Clinical Domain Working Group
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2018-10-11
- Volume
- 39
- Issue
- 11
- Pages
- 1593-1613
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2952683165
- Cited by
- 485
- References
- 4
- FWCI
- 21.38
- Type
- journal article
- Language
- en
- Open access
- bronze
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