SNP and SNV Genotyping
Why Genotype for SNVs or SNPs?
Detecting a change in a single nucleotide can provide essential insights if it is associated with a particular disease or a relevant phenotype. For example, SNPs are associated with heart disease, immune dysfunction, cancer, and many other diseases. SNPs can also be associated with how individuals respond to certain drugs, leading to a more personalized approach to medicine through pharmacogenomics. Similarly, genetic variations can identify how genes influence phenotypes in plants and animals to improve agriculture.
What are SNV and SNP Genotyping?
SNV and SNP genotyping are techniques that analyze genomic sequence variations. These single-base substitutions are typically detected using real-time PCR, microarrays, or next-generation sequencing techniques.
A single nucleotide variant (SNV) is a variation of a single nucleotide in a population’s genome. Though similar to SNVs, a single nucleotide polymorphism (SNP) is also a single base substitution, but it is limited to only germline DNA and must be present in at least 1% of the population.
Comparing SNP and SNV Genotyping Techniques
Real-Time PCR
- High sensitivity
- Familiar workflow
- Capital equipment available in most labs
Microarrays
- Trusted data quality and proven track record
- Can focus on target-rich areas
- Scalable and cost-effective
- Robust analysis pipeline and uncomplicated variant interpretation
NGS
- Unbiased variant discovery using only limited knowledge of the presence or nature of the variants
- High throughput capabilities and scalability
- Small sample size input
- Emerging user-friendly tools to simplify analysis
Array-Based SNP Genotyping
Microarray-based SNP genotyping offers several key advantages to identify variants of interest. These arrays analyze specific genomic regions to efficiently detect SNPs that are relevant to your biological system. By analyzing thousands of samples with our array platforms, you can be confident about your data quality in a scalable workflow.
NGS-Based SNP Genotyping
NGS-powered SNP genotyping is a powerful approach toward finding important genomic variants. Analyze whole genomes or perform deep sequencing in target regions with higher sensitivity and discovery power compared to other technologies. By harnessing ultra-high throughput capabilities, scalability, and the speed of NGS, you’ll be able to accelerate discoveries using our sequencing systems.
From association to insight with SNPs
Drs. Nadav Ahituv, Professor at UCSF, and Gosia Trynka of the Sanger Institute and Open Targets, discuss the latest advances in sequencing technologies to find functional SNPs from genome-wide association studies (GWAS). Here, you’ll learn how they link SNPs with functional variants to provide insights into disease mechanisms and other important traits.
View WebinarResearchers Discuss SNP Genotyping Insights
Unraveling the many genes in cancer
Read how Drs. Jeffery Weitzel and Kathleen Blazer developed a polygenic risk score for cancer and how their research is opening the door for personalized treatment strategies through SNP detection.
Cytogenetic analysis using our SNP Arrays
Dr. Simon Andrew Zwoliński describes how our arrays identified cytogenetically relevant genes using SNP detection.
Precision Healthcare and Pharmacogenomics
Read how Dr. Devin Absher, Director of Genomic Health at HudsonAlpha, drives precision healthcare through pharmacogenomics.
Combine NGS with arrays for deeper insights
Optimize your search for SNPs by combining NGS and arrays for efficiency and accuracy. By using arrays to survey large-scale populations, you’ll be able to quickly identify known SNPs. Further refine your search for novel variants using our comprehensive range of NGS platforms. Whether you are looking for versatile benchtop models or highthroughput systems, we offer unbridled service and cost-effective solutions for your needs.
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See how detecting genomic variations can guide a patient’s response to medicine and achieve a more individualized approach to healthcare.
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Curious about GWAS in your studies? Learn about our solutions in GWAS-based studies that uncovered key discoveries for complex diseases.
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Read about key differences between qPCR- and NGS-based technologies as it relates to cost, efficiency, scalability, and most of all discovery power!
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