ArticleHuman mutation2009
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Facile solid-liquid biphasic PCR platform for ultrasensitive multiplex detection and genotyping of HPV.Mikrochimica acta · 2025Article
- Genetic analysis ofArchives animal breeding · 2025Article
- Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes.Frontiers in pediatrics · 2022Article
- Rapid screening ofExperimental and therapeutic medicine · 2021Article
- Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.Scientific reports · 2019Article
- High Resolution Melting (HRM) for High-Throughput Genotyping-Limitations and Caveats in Practical Case Studies.International journal of molecular sciences · 2017Article
- A method for identifying discriminative isoform-specific peptides for clinical proteomics application.BMC genomics · 2016Article
- Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population.BMC genetics · 2015Article
- Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population.PloS one · 2015Article
- Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.Molecular medicine reports · 2014Article
- In silico single strand melting curve: a new approach to identify nucleic acid polymorphisms in Totiviridae.BMC bioinformatics · 2014Article
- Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.Cancer discovery · 2014Article
- Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.Breast cancer research : BCR · 2014Article
- Identification and Association of SNPs in TBC1D1 Gene with Growth Traits in Two Rabbit Breeds.Asian-Australasian journal of animal sciences · 2013Article
- Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis.F1000Research · 2013Article
- RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.PloS one · 2012Article
- Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.BMC medical genomics · 2011Article
- The rs8099917 polymorphism, when determined by a suitable genotyping method, is a better predictor for response to pegylated alpha interferon/ribavirin therapy in Japanese patients than other single nucleotide polymorphisms associated with interleukin-28B.Journal of clinical microbiology · 2011Article
- Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.Breast cancer research : BCR · 2011Article
- A PALB2 mutation associated with high risk of breast cancer.Breast cancer research : BCR · 2010Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence variations. However, the presence of a common SNP within a mutation scanning amplicon may considerably complicate the interpretation of results and increase the number of samples flagged for sequencing by interfering with the clustering of samples according to melting profiles. A protocol describing simultaneous high-resolution gene scanning and genotyping has been reported. Here, we show that it can improve the sensitivity and the efficiency of large-scale case-control mutation screening. Two exons of ATM, both containing an SNP interfering with standard mutation scanning, were selected for screening of 1,356 subjects from an international breast cancer genetics study. Asymmetric PCR was performed in the presence of an SNP-specific unlabeled probe. Stratification of the samples according to their probe-target melting was aided by customized HR-melt software. This approach improved identification of rare known and unknown variants, while dramatically reducing the sequencing effort. It even allowed genotyping of tandem SNPs using a single probe. Hence, HR-melt is a rapid, efficient, and cost-effective tool that can be used for high-throughput mutation screening for research, as well as for molecular diagnostic and clinical purposes.
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