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Genotyping

Robust and reliable detection of known and unknown variants

Genotyping

Genotyping of SNPs has become a key component of genetic studies. Identify and map SNP markers to study the genetic basis of complex diseases, detect common disease-associated mutations with the final aim to create personalized drugs that are individually tailored for each person’s genetic make-up.

Rely on Roche's Genotyping solutions to support your detection of known variants or discovery of new variants.

For detection of known variants, two different methods of SNP analysis are available:

  • The basic, most commonly used me thod is Endpoint Genotyping analysis using enzymatically cleaved hydrolysis probes.
  • A more advanced method is Melting Curve Genotyping analysis using hybridizing HybProbe or SimpleProbe probes.

Using the LightCycler® system, perform endpoint genotyping and melting curve genotyping in order to identify known genetic mutations quickly and easily. For unknown mutations, take advantage of HRM analysis to discover single-point mutations on a stretch of DNA, also known as gene scanning. When combined with DNA bisulfite modification protocols, such high resolution melting approaches can also be adapted to the study of methylation patterns.

Roche continues to innovate, and with that comes a dedication to the scientists who use the LightCycler® system for their experimental needs. Benefit from Roche's experience in real-time PCR and achieve precise, consistent results with a full range of instruments, reagents, assays, and disposables to fit any laboratory throughput or budget.

Scatter Plot displays the terminal fluorescence intensities.

Endpoint Genotyping

Detect known variants by qPCR.

Identify known genetic mutations quickly and easily with ready-to-use LightCycler® Master Mixes designed for endpoint genotyping, the most commonly used genotyping method. These mixes will provide you with a robust and reliable testing method for SNPs by endpoint analysis with hydrolysis probes.

 

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Melting Peaks

Melting Curve Genotyping

Detect known and unknown variants by qPCR.

Genotype different alleles or allele combinations with Roche reagents optimized for HybProbe- or SimpleProbe probes. Choose this method to detect additional unknown SNPs within the sequence covered by a single target-specific probe.

 

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LightCycler® Reagents for High Resolution Melting Master

Gene Scanning

Discover new variants.

Find unknown mutations by performing gene scanning with the Roche LightCycler® Reagents for High Resolution Melting. Achieve outstanding specificity and sensitivity with a master mix containing ResoLight, a novel dye that does not inhibit amplification enzymes or interfere with qPCR and that detects changes in melting temperature down to a single base pair substitution.

 

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LightCycler® 480 Instrument

qPCR Instruments

Generate results you can trust

Find genetic variations and amplify your success in real-time PCR applications with the LightCycler® Instruments. Choose the system that best suits your needs, with flexible and automated analysis modules for all types of genotyping and for gene scanning.

 

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