The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
ACMG clinical laboratory standards for next-generation sequencing
Open accessAbstract
Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual’s near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines.Genet Med 15 9, 733–747.Genetics in Medicine (2013); 15 9, 733–747. doi:10.1038/gim.2013.92
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Cites
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A survey of sequence alignment algorithms for next-generation sequencing
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“It is well known that many databases contain misclassified variants, particularly benign variation misclassified as disease causing (Bell et al. 2011).”
BackgroundA standardized framework for the validation and verification of clinical molecular genetic tests
for the EuroGentest Validation Group, Mattocks, C. J., Morris, M. A., Matthijs, G., Swinnen, E., Corveleyn, A., Dequeker, E., Müller, C. R., Pratt, V., & Wallace, A. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.101 · Cited by 205
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Guidelines for investigating causality of sequence variants in human disease
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224
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Best practices for benchmarking germline small-variant calls in human genomes
the Global Alliance for Genomics and Health Benchmarking Team, Krusche, P., Trigg, L., Boutros, P. C., Mason, C. E., De La Vega, F. M., Moore, B. L., Gonzalez-Porta, M., Eberle, M. A., Tezak, Z., et al. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0054-x · Cited by 429
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Metadata
- Authors
- Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., Friez, M. J., Funke, B. H., Hegde, M. R., & Lyon, E.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 15
- Issue
- 9
- Pages
- 733-747
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2057152418
- Cited by
- 907
- References
- 4
- FWCI
- 62.52
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., Friez, M. J., Funke, B. H., Hegde, M. R., & Lyon, E. (2013). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine. https://doi.org/10.1038/gim.2013.92
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