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Sequencing & Fragment Analysis Applications
From research to the clinic, single gene to small gene panels to exomes or transcriptomes, our sequencing & fragment analysis solutions—using CE or NGS—help you master your sequence across a diverse set of applications.
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Next-generation sequencing (NGS)
A combination of genetic, environmental, and lifestyle factors are thought to play a part in development of complex disease. Examples include autoimmune disorders, neurodegenerative diseases, and many others. Our complete sequencing solutions are uniquely suited to research aimed at understanding how the combination of genetics and environment influence development of complex disease.
Understanding risk factors for inherited genetic disorders is an important step in evaluating reproductive options. Expanded carrier screening (ECS) research and preimplantation testing offer critical insights that may increase probability of success for future pregnancies and healthier future generations.
Single-gene testing by Sanger sequencing is the most cost-effective method for the study of inherited disorders with low phenotypic and genetic heterogeneity. However, as the levels of heterogeneity increase, it’s more efficient to use NGS panels to study multiple targets simultaneously.
We offer a broad range of genomic technologies to characterize microbes. Our optimized platforms for NGS, Sanger sequencing by capillary electrophoresis, and real-time PCR offer highly effective approaches to analyzing viruses, bacteria, fungi, and other eukaryotic microorganisms and microbial communities.
Focus your cancer research with end-to-end targeted sequencing solutions including sample to analysis and report for solid tumor samples, immuno-oncology, and more. Accurately screen or confirm somatic and germline variants of choice using Sanger sequencing.
Sanger sequencing/fragment analysis
Sanger sequencing by capillary electrophoresis can be used to determine the efficiency of CRISPR and TALEN-mediated genome editing in primary transformed cultures. Sanger sequencing is an efficient research method to confirm successful genome edits in transformed cultures and to screen secondary clones for successful editing events. Minor Variant Finder Software can be used to determine the frequency of SNP changes in clones isolated from secondary cultures.
We offer a complete workflow for verifying variants discovered by NGS systems. Applied Biosystems products are optimized to work together. NGS variants that are marked for verification can be directly imported into the Primer Designer Tool, where PCR primer pairs can be chosen and ordered for use in cycle sequencing with the BigDye Direct Cycle Sequencing Kit and the 3500 Genetic Analyzer.
Molecular profiling of cancers is becoming more and more important in the research area of personalized cancer therapy, or precision oncology. NGS provides a valuable method for high-throughput applications when many targets and samples need to be multiplexed and screened. However, for very focused applications such as single-analyte or single-gene targets, there is a clear need for fast, simple, and affordable methods for detecting low-level somatic variants. The improved sensitivity achieved using Minor Variant Finder Software makes Sanger sequencing an ideal technology for filling this gap.
Formalin-fixed paraffin-embedded (FFPE) tissue is a standard sample type in histology and pathology laboratories; however, the fixation process often damages DNA, resulting in a limited amount of starting material for molecular genetic analysis. In order to extract maximal information from minimal sample amounts, we developed a workflow that enables robust genotyping results from less than 1 ng of FFPE DNA. Utilizing Ion AmpliSeq technology with Sanger sequencing, we offer an ideal solution for routine labs working with a limited number of samples/targets, as well as high-throughput labs that need an orthogonal method for confirming minor alleles.
The Applied Biosystems HIV-1 Genotyping Kit harnesses gold-standard Sanger sequencing technology to amplify and reliably sequence the diverse and rapidly evolving HIV-1 virus. The kit enables reliable genotyping of the genetically diverse HIV-1 virus from plasma and dried blood spot (DBS) samples, to detect resistance to protease inhibitors, nucleoside reverse-transcriptase inhibitors, and non-nucleoside reverse-transcriptase inhibitors.
For de novo sequencing using capillary electrophoresis, the target DNA is fragmented and cloned into a viral or plasmid vector. Cloning provides amplification of the target DNA (by bacterial growth) and allows sequencing primers to bind to known sequence in the vector and extend the sequence into the unknown target DNA. de novo sequencing methods are described in the Sequencing Chemistry Guide page 16-20.
Human sample identification can be defined as three applications: human cell line authentication, sample authentication, and mixed sample analysis. Short tandem repeat (STR) genotyping is an important tool in verifying the authenticity of human cell lines, quality control of stored human tissues and fluids, and assessing the nature of known mixtures.
Genotyping of SNPs has become extremely important to researchers working to understand and treat disease. SNPs occur approximately once every 100 to 300 bases and the SNaPshot Multiplex System is a primer extension-based method developed for the analysis of SNPs.
Microsatellite analysis includes PCR amplification of the microsatellite loci using fluorescently labeled primers; labeled PCR products are then analyzed by capillary electrophoresis (CE) or electrophoresis to separate the alleles by size. We offer a broad range of reagents, kits, instruments, and software that will help you achieve consistently precise and reliable results for a multitude of research applications.
For Research Use Only. Not for use in diagnostic procedures.