Genotyping

Genotyping

Introduction to Genotyping

Genotyping enables researchers to explore genetic variants such as single nucleotide polymorphisms (SNPs) and large structural changes in DNA. High-throughput genomic technologies such as next-generation sequencing (NGS) and microarrays enable a deeper understanding of disease etiology on a molecular level.

With multiple genomic targets potentially contributing to disease, analysis requires flexibility and accuracy. SNP genotyping and copy number variation (CNV) data analysis tools can analyze results for millions of markers and probes and detect sample outliers, providing insight into the functional consequences of genetic variation.

Key Genotyping Techniques

Whole-Genome Genotyping

Interrogate SNPs and other variants across the entire genome to obtain the most comprehensive view of genomic variation. Learn More

Targeted Genotyping

Focus time and resources on genotyping SNPs and other variants in a specific genomic region of interest, often with higher coverage. Learn More

Custom Genotyping

Perform studies on genome regions or organisms of interest for which standard products are not available. Learn More

Copy Number Variation Analysis

Detect DNA copy number changes, as well as aberrant chromosome amplifications and deletions, relative to a reference genome. Learn More

Production-Scale Genotyping Solution

Infinium XT optimizes the user experience as labs take production-scale genotyping studies to the next level of throughput. This 96-sample BeadChip array enables processing of 100,000 to > 1,000,000+ samples/year, for any species, with user-defined content. Learn More

iScan System Features

Extensive Applications

Empower your research with a revolutionary high-precision scanner that supports an extensive range of array applications, unlocking the potential for limitless discovery. The iScan System supports our broad portfolio of innovative genetic analysis assays for genotyping, CNV analysis, DNA methylation, and gene expression profiling.

Innovative Imaging System

The iScan system uses high performance lasers, optics and detection systems to offer sub-micron resolution and unmatched throughput rates. The result is dramatically reduced scan times without sacrificing data quality and reproducibility. With a high signal-to-noise ratio, high sensitivity, low limit of detection, and broad dynamic range, the iScan system produces exceptional data quality for any biomarker screening or validation study.

Flexible, Scalable System

The iScan system offers the flexibility to meet a variety of throughput needs. Automating assay processing with a liquid-handling robot and Autoloader 2.x reduces hands-on time and enables scanning to occur 24 hours per day. Scanners and components are modular, creating a tunable system that can be configured to match any scale of project.

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