The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening
Open accessAbstract
Transition of the double-stranded DNA molecule to its two single strands, DNA denaturation or melting, has been used for many years to study DNA structure and composition. Recent technological advances have improved the potential of this technology, especially to detect variants in the DNA sequence. Sensitivity and specificity were increased significantly by the development of so-called saturating DNA dyes and by improvements in the instrumentation to measure the melting behavior (improved temperature precision combined with increased measurements per time unit and drop in temperature). Melt analysis using these new instruments has been designated high-resolution melting curve analysis (HRM or HRMA). Based on its ease of use, simplicity, flexibility, low cost, nondestructive nature, superb sensitivity, and specificity, HRMA is quickly becoming the tool of choice to screen patients for pathogenic variants. Here we will briefly discuss the latest developments in HRMA and review in particular other applications that have thus far received less attention, including presequence screening, single nucleotide polymorphism (SNP) typing, methylation analysis, quantification (copy number variants and mosaicism), an alternative to gel-electrophoresis and clone characterization. Together, these diverse applications make HRMA a multipurpose technology and a standard tool that should be present in any laboratory studying nucleic acids.
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High-Resolution Genotyping by Amplicon Melting Analysis Using LCGreen
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High Throughput Gene Expression Measurement with Real Time PCR in a Microfluidic Dynamic Array
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Measurement of locus copy number by hybridisation with amplifiable probes
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Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping
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Somatic APC mosaicism: an underestimated cause of polyposis coli
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Cited by
High-resolution DNA melting analysis: advancements and limitations
Wittwer, C. T. (2009) · Human Mutation · doi:10.1002/humu.20951 · Cited by 468
How to deal with the upcoming challenges in GMO detection in food and feed
Broeders, S. R. M., De Keersmaecker, S. C. J., & Roosens, N. H. C. (2012) · Journal of Biomedicine and Biotechnology · doi:10.1155/2012/402418 · Cited by 85
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening
Handt, M., Epplen, A., Hoffjan, S., Mese, K., Epplen, J. T., & Dekomien, G. (2014) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2014.08.003 · Cited by 48
Chatzidimopoulos, M., Ganopoulos, I., Moraitou-Daponta, E., Lioliopoulou, F., Ntantali, O., Panagiotaki, P., & Vellios, E. K. (2019) · Frontiers in Ecology and Evolution · doi:10.3389/fevo.2019.00489 · Cited by 19
Metadata
- Authors
- Vossen, R. H. A. M., Aten, E., Roos, A., & den Dunnen, J. T.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-06
- Volume
- 30
- Issue
- 6
- Pages
- 860-866
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2148408838
- Cited by
- 484
- References
- 16
- FWCI
- 22.81
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Vossen, R. H. A. M., Aten, E., Roos, A., & den Dunnen, J. T. (2009). High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening. Human Mutation. https://doi.org/10.1002/humu.21019
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