The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Open accessAbstract
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing–based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health. To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the technology used to identify them, the American College of Medical Genetics and Genomics has developed the following professional standards in collaboration with the National Institutes of Health (NIH)–funded Clinical Genome Resource (ClinGen) project. This update introduces a quantitative, evidence-based scoring framework; encourages the implementation of the five-tier classification system widely used in sequence variant classification; and recommends “uncoupling” the evidence-based classification of a variant from its potential implications for a particular individual. These professional standards will guide the evaluation of constitutional CNVs and encourage consistency and transparency across clinical laboratories.
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Self-citationKalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,644
Self-citationClinGen — The Clinical Genome Resource
Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1406261 · Cited by 1,496
Self-citationDiet and the evolution of human amylase gene copy number variation
Perry, G. H., Dominy, N. J., Claw, K. G., Lee, A. S., Fiegler, H., Redon, R., Werner, J., Villanea, F. A., Mountain, J. L., Misra, R., et al. (2007) · Nature Genetics · doi:10.1038/ng2123 · Cited by 1,465
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Modeling 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
Towards an evidence‐based process for the clinical interpretation of copy number variation
Riggs, E., Church, D., Hanson, K. J., Horner, V., Kaminsky, E. B., Kuhn, R. M., Wain, K., Williams, E., Aradhya, S., Kearney, H., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01818.x · Cited by 124
Self-citationKearney, H. M., South, S. T., Wolff, D. J., Lamb, A. N., Hamosh, A., & Rao, K. W. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822272ac · Cited by 100
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The role of common genetic variation in presumed monogenic epilepsies
Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., et al. (2022) · eBioMedicine · doi:10.1016/j.ebiom.2022.104098 · Cited by 42
Shimelis, H., Oetjens, M. T., Walsh, L. K., Wain, K. E., Znidarsic, M., Myers, S. M., Finucane, B. M., Ledbetter, D. H., & Martin, C. L. (2023) · American Journal of Psychiatry · doi:10.1176/appi.ajp.22010062 · Cited by 25
Self-citationSanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.07.007 · Cited by 24
Cohen, A. S. A., Berrios, C. D., Zion, T. N., Barrett, C. M., Moore, R., Boillat, E., Belden, B., Farrow, E. G., Thiffault, I., Zuccarelli, B. D., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.03.016 · Cited by 21
Metadata
- Authors
- Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., Pineda-Alvarez, D., Aradhya, S., & Martin, C. L.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2020-02
- Volume
- 22
- Issue
- 2
- Pages
- 245-257
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2983742483
- Cited by
- 1,768
- References
- 16
- FWCI
- 78.96
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., Pineda-Alvarez, D., Aradhya, S., & Martin, C. L. (2020). Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genetics in Medicine. https://doi.org/10.1038/s41436-019-0686-8
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