SNP Panel & Sequencing

Overview of SNP

SNP Panel and Sequencing

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.

Featured Services

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.

    • ARMS-PCR

      • 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

        Primer Design: Two sets of allele-specific primers are designed, each complementary to one of the SNP alleles. One primer in each set matches the SNP allele (perfectly complementary), while the other primer has a deliberate mismatch at its 3' end. These primers are designed in such a way that the mismatched primer only efficiently amplifies the target allele, while the matched primer amplifies both the target allele and any non-target allele.
        PCR Amplification: The DNA sample containing the SNP is subjected to PCR amplification using the two sets of primers. If the target allele is present in the DNA sample, the allele-specific primer with the deliberate mismatch will preferentially amplify that allele, resulting in a specific PCR product. If the non-target allele is present, the matched primer will amplify both alleles, resulting in a different-sized PCR product.

        CD Genomics ARMS-PCR ServiceCD Genomics ARMS-PCR Service

        Gel Electrophoresis: The PCR products are separated by gel electrophoresis based on their sizes. The different alleles will generate distinct bands on the gel. By comparing the band patterns with known controls or markers, the genotype of the sample (homozygous for the target allele, homozygous for the non-target allele, or heterozygous) can be determined.
        Improved Methods: Tetra-primer ARMS-PCR is an enhanced version of ARMS-PCR that involves the use of four primers. This approach increases specificity and simplifies interpretation of results. Additionally, as you mentioned, some versions of ARMS-PCR use real-time fluorescent PCR with closed-tube detection. In these cases, a fluorescent probe is used to monitor amplification in real-time, and the presence of a specific allele is determined based on the amplification curve and fluorescence intensity.
    • Multiplex SNaPshot

      • Our Multiplex SNaPshot service utilizes a cutting-edge technique based on fluorescence-labeled single-base extension, also known as mini-sequencing.

        Precision Primer Design: Developed by Applied Biologics Inc (ABI), our service employs the SNaPshot method. Its intelligent primer design places the 3' end of extension primers directly adjacent to SNP sites, enabling accurate genotyping.
        Customized Extension Primers: We provide extension primers of varying lengths, tailored to different SNP sites. This unique approach allows us to differentiate SNP sites based on primer length.
        Fluorescence-Based Detection: Through multiplex PCR amplification in a ddNTP system, extension is halted after a single base addition. The inclusion of sequencing enzymes and four distinct fluorescent markers enables precise detection.

        The principle and process of SNaPshot Multiplex System.The principle and process of SNaPshot Multiplex System.

        Sequencer Analysis: Our state-of-the-art sequencer analyzes the extension products. Peaks in the output pinpoint SNP sites, while the colors of these peaks identify specific base types, delivering comprehensive genetic information.
        Rapid Results: The efficiency of our Multiplex SNaPshot service ensures timely results, empowering you with valuable genetic insights quickly.
        Highly Accurate: With its rigorous design and advanced detection method, our service offers a high level of accuracy in SNP genotyping, minimizing errors and enhancing data reliability.
        Comprehensive Genetic Analysis: Unlock a wealth of genetic information through our service, enabling you to make informed decisions and gain a deeper understanding of genetic variations.
    • MassARRAY

      • As a leader in SNP typing, our MassArray service provides a cost-effective solution for medium- to high-throughput SNP detection.

        CD Genomics MassARRAY serviceCD Genomics MassARRAY service

        Key Features

        Precision Technology: Our system utilizes laser-excited fragments and time-of-flight measurements to determine DNA molecule weights accurately, making it a cornerstone in genetic mutation detection.
        Flexibility: The MassARRAy method adapts seamlessly to various experimental designs, offering versatility in research.
        Cost-Effective: Conduct analysis on hundreds to thousands of samples without compromising on accuracy or breaking the bank.
        High Throughput: Handle sample throughput ranging from hundreds to tens of thousands, catering to diverse research demands.

        Ideal for

        GWAS Validation: Perfect for validating GWAS experiments, ensuring reliable results for your genetic research.
        Association Analysis: Uncover insights through association studies with confidence, thanks to our robust and efficient platform.
    • Tumor Whole Genome Sequencing

      • 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 Workflow

        DNA Extraction: We isolate DNA from your sample, setting the stage for analysis.
        Fragmentation and Library Building: Controlled DNA fragmentation yields fragments of 200-500 base pairs. Connector molecules are added, enabling library creation.
        Sequencing Mastery: Utilizing cutting-edge technology like Illumina, we sequence and decode fragments simultaneously.

        Our Tumor WGS service opens doors to:

        SNP Exploration: Dive into single nucleotide polymorphisms for subtle yet crucial genetic variations.
        Spotting Structural Variants: Identify larger genetic alterations, known as structural variant sites (SV).
        Copy Number Insight: Profile copy number variant sites (CNV) to grasp segment duplications or deletions.

        CD Genomics Solid Tumor Whole Genome SequencingCD Genomics Solid Tumor Whole Genome Sequencing

    • Exome Capture Panel 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.

        Library Construction

        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.

        Exon Targeting Capture

        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.

        Sequencing Analysis

        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.

How Can We Help in Your SNP Research?

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.

* For Research Use Only. Not for use in diagnostic procedures.

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