Single Nucleotide Polymorphisms (SNPs) are common DNA sequence variations involving a single nucleotide change in the genome, encompassing substitutions, insertions, and deletions. These variations are prevalent in humans, occurring approximately once every 500-1000 base pairs, with over 3 million SNP sites identified. While most SNPs don't influence amino acid composition, a subset can affect proteins. SNPs serve as essential molecular markers, finding applications in molecular genetics, forensic analysis, and medical diagnostics.
SNPs possess significance in understanding phenotypic distinctions, drug reactions, and disease susceptibility, holding promise in precision medicine, disease screening, and treatment optimization. Notably, certain SNP loci have been linked to Covid-19 virus pneumonia symptoms, and during evolutionary processes, SNP mutations have arisen in novel coronaviruses, potentially heightening infectivity and virulence. These findings emphasize the importance of SNPs in various aspects of research and application, impacting areas closely related to human well-being.
CD Genomics provides comprehensive SNP Panel and Sequencing solutions based on NGS and non-NGS technologies. Our commitment to accuracy, reliability, and innovation ensures that your genetic insights are built on a solid foundation.
Amplification Refractory Mutation System PCR (ARMS-PCR), also known as Allele-Specific PCR (AS-PCR), is a technique commonly used for detecting single nucleotide polymorphisms (SNPs) in DNA samples. SNPs are variations in a single nucleotide base at a specific position in the genome, and they can have important implications for disease susceptibility, drug response, and other genetic traits.
ARMS-PCR exploits the principle that Taq DNA polymerase, the enzyme used in the PCR process, has difficulty extending a primer if there is a mismatch at the 3' end of the primer-template complex. This property is harnessed to selectively amplify DNA sequences containing a specific allele while suppressing amplification of sequences containing a different allele.
Our ARMS-PCR Workflow for SNP Detection
CD Genomics ARMS-PCR Service
Our Multiplex SNaPshot service utilizes a cutting-edge technique based on fluorescence-labeled single-base extension, also known as mini-sequencing.
The principle and process of SNaPshot Multiplex System.
As a leader in SNP typing, our MassArray service provides a cost-effective solution for medium- to high-throughput SNP detection.
CD Genomics MassARRAY service
Explore the depths of genetic information with our new Tumor Whole Genome Sequencing service, now available alongside our SNP Panel Service offerings.
Tumor WGS is your gateway to uncovering comprehensive insights into genetic composition. By sequencing entire genomes, we bring you SNP locus details through precise comparisons.
Our Tumor WGS service opens doors to:
CD Genomics Solid Tumor Whole Genome Sequencing
Exome Capture Panel Sequencing, or Exome Sequencing, is a powerful genetic analysis technique that focuses on sequencing the exon regions of your genome. Exons are the parts of genes that contain the information necessary for producing functional proteins. By selectively sequencing only these important regions, whole Exome Panel sequencing allows us to efficiently identify variations and Single Nucleotide Polymorphisms (SNPs) within genes that are crucial for understanding traits, diseases, and genetic variations.
During this phase, we carefully prepare your genomic DNA. Fragments are enhanced with junctions and indexes at both ends, followed by amplification and purification to ensure the highest quality samples.
This step involves hybridizing the library with a specially designed exon probe library. This probe-library complex is then bound to magnetic beads for capturing exon sequences. The captured DNA is recovered and subjected to further library construction through PCR amplification. We proudly offer a dedicated Medical Exome Panel as part of our service.
The captured exon libraries undergo sequencing using state-of-the-art second-generation sequencing technology, similar to Whole Genome Sequencing (WGS). This stage provides detailed gene sequences for further analysis.
Studies focusing on Single Nucleotide Polymorphisms (SNPs) can be broadly classified into two main categories:
This category involves two primary objectives: Discovery of New SNP Loci: Researchers aim to identify previously unknown SNP sites within the genome. This discovery process contributes to expanding our understanding of genetic variation and its potential implications. Determining Relationship with Genetic Diseases: Scientists investigate the associations between newly discovered or existing SNPs and genetic diseases. This includes assessing whether specific SNPs are correlated with disease susceptibility, severity, or other phenotypic traits. Such analyses provide valuable insights into the genetic basis of diseases.
This category focuses on studying SNPs that are already identified and characterized: Genetic Diversity Studies: Researchers analyze the prevalence and distribution of known SNPs within different populations. By comparing SNP frequencies among various ethnic or geographic groups, insights into genetic diversity, population migrations, and ancestry can be gained. Genetic Diagnosis of Diseases: Known disease-associated SNPs are utilized for genetic diagnostics. These SNPs can be used as markers to identify individuals at risk of specific genetic disorders or to predict responses to certain medications. This approach has applications in personalized medicine and clinical decision-making.
For more information about our SNP Panel Solution or need other requirements, please contact us.