| 1. |
- Lahermo, P, et al.
(författare)
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A quality assessment survey of SNP genotyping laboratories
- 2006
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 27:7, s. 711-714
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- To survey the quality of SNP genotyping, a joint Nordic quality assessment (QA) round was organized between 11 laboratories in the Nordic and Baltic countries. The QA round involved blinded genotyping of 47 DNA samples for 18 or six randomly selected SNPs. The methods used by the participating laboratories included all major platforms for small- to medium-size SNP genotyping. The laboratories used their standard procedures for SNP assay design, genotyping, and quality control. Based on the joint results from all laboratories, a consensus genotype for each DNA sample and SNP was determined by the coordinator of the survey, and the results from each laboratory were compared to this genotype. The overall genotyping accuracy achieved in the survey was excellent. Six laboratories delivered genotype data that were in full agreement with the consensus genotype. The average accuracy per SNP varied from 99.1 to 100% between the laboratories, and it was frequently 100% for the majority of the assays for which SNP genotypes were reported. Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy.
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| 2. |
- Russom, Aman, et al.
(författare)
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Rapid melting curve analysis on monolayered beads for high-throughput genotyping of single-nucleotide polymorphisms
- 2006
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Ingår i: Analytical Chemistry. - : American Chemical Society (ACS). - 0003-2700 .- 1520-6882. ; 78:7, s. 2220-2225
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Tidskriftsartikel (refereegranskat)abstract
- This report describes a rapid solid-phase melting curve analysis method for single-nucleotide polymorphism (SNP) genotyping. The melting curve analysis is based on dynamic allele-specific hybridization (DASH). The DNA duplexes are conjugated on beads that are immobilized on the surface of a microheater chip with integrated heaters and temperature sensors. SNP on PCR products were scored, illustrating the sensitivity and robustness of the system. The method is based on random bead immobilization by microcontact printing. Single-bead detection and multiplexing were performed with a heating rate more than 20 times faster than conventional DASH. Analyses that took more than 15 min could be performed in less that 1 min, enabling ultrarapid SNP analysis. In addition, an array version of the chip was implemented enabling the preparation of an array of bead arrays for high-throughput and rapid SNP genotyping.
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| 3. |
- Russom, Aman, et al.
(författare)
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Ultra-rapid melting curve analysis on beads for high-throughput genotyping of single nucleotide polymorphism
- 2005
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Ingår i: Micro Total Analysis Systems - Proceedings of MicroTAS 2005 Conference. - : Transducers Research Foundations. - 9780974361116 ; , s. 1006-1008
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Konferensbidrag (refereegranskat)abstract
- This report describes a rapid solid-phase melting curve analysis method based on dynamic allele-specific hybridization (DASH) for single nucleotide polymorphism (SNP) genotyping. Beads with DNA duplexes are immobilized on the surface of a microheater chip. SNP on PCR products were scored, illustrating the sensitivity and robustness of the system. Single-bead detection and multiplexing were performed with a heating rate more than 20 times faster than conventional DASH. Hence, analyses that took more than 15 minutes could be performed in less than 1 minute, enabling ultra-rapid SNP analysis.
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