2004
DOI: 10.1002/humu.20031
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Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003

Abstract: The Seventh International Symposium on Mutations in the Human Genome, Mutation Detection 2003, was held during 2-6 July 2003 in Palm Cove near Cairns, Australia. The meeting was organized under the auspices of the Human Genome Organisation (HUGO) as a satellite meeting of the International World Congress of Genetics, held in Melbourne the following week. Meeting participants reported on advances in mutation detection technologies, including advances in high-throughput detection systems for SNP genotyping appli… Show more

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Cited by 9 publications
(8 citation statements)
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“…This is higher than that of other gel-based mutationscreening methods, such as SSCP, which has a detection rate of approximately 90% [Moyret et al, 1994]. Furthermore, DGGE analysis can be used for routine mutation scanning in capillary sequencing instruments [Syvanen and Taylor, 2004]. Like DGGE, the DHPLC technique fulfills several of the criteria for an optimal genetic test and has proven to be efficient and more sensitive than SSCP and HD for detecting mutations in the TSC genes [Dabora et al, 2001;Cheadle et al, 2000].…”
Section: Discussionmentioning
confidence: 99%
“…This is higher than that of other gel-based mutationscreening methods, such as SSCP, which has a detection rate of approximately 90% [Moyret et al, 1994]. Furthermore, DGGE analysis can be used for routine mutation scanning in capillary sequencing instruments [Syvanen and Taylor, 2004]. Like DGGE, the DHPLC technique fulfills several of the criteria for an optimal genetic test and has proven to be efficient and more sensitive than SSCP and HD for detecting mutations in the TSC genes [Dabora et al, 2001;Cheadle et al, 2000].…”
Section: Discussionmentioning
confidence: 99%
“…It is sometimes necessary to show not only the presence or absence of SNP in sample, but also to determine the quantitative ratio of normal and mutant alleles. This is important, e.g., in the work with tumor tissues or in the determination of the ratio of different alleles in total genomic DNA samples taken from many donors [12]. We showed in a model experiment that DSNP can be used for the semiquantitative determination of the mutant gene content in a complex DNA sample.…”
Section: Introductionmentioning
confidence: 98%
“…or peculiarities of their interactions with special probes (fluorescent and luminescent probes, allele-specific primers, etc.) [10][11][12][13][14]. Many of the methods are adapted to the SNP analysis both in solution and on solid phase [15,16].…”
Section: Introductionmentioning
confidence: 99%
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“…Both approaches can be used for mutational scanning in homogeneous assays performed in closed tubes or on solid-phase assays in microarray platforms (1 ).…”
mentioning
confidence: 99%