† The PCR process is covered by patents owned by Roche Molecular Systems, Inc.,
and F. Hoffman-La Roche, Ltd.
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Beckman Coulter and the stylized logo are registered trademarks of Beckman Coulter, Inc.
Genotyping
Beckman Coulter Genomics provides a wide genotyping offering for research and regulatory-compliant DNA variation analysis. Services include whole exome, custom region of interest, and candidate gene genotyping using next generation sequencing and targeted or individual SNP genotyping using real-time PCR† or Sanger sequencing.
Service Offerings
SNP Discovery and Resequencing
Bi-directional Sanger DNA sequencing for high quality resolution of homopolymers, insertions, deletions and microsatellites. Downstream variant annotation services are available.
Targeted Resequencing
Ultra-deep amplicon, exome or targeted genome re-sequencing using next generation sequencing. Ideal for SNP detection of rare variants or for heterogeneous templates such as cancer cells. Downstream variant annotation services are available.
Genomic Biomarker Services
Exome or custom region of interest and candidate gene resequencing services for biomarker discovery or biomarker validation. Genotyping services can be combined with expression analysis services, for instance to validate allelic loss.
Targeted Genotyping
For the analysis of small customized panels and targeted subsets in smaller sample sizes using ABI* TaqMan* or ABI 3730XL sequence analysis.
Value-added Services
For complete solutions for your genotyping needs also available are project design services, nucleic acid extraction, whole genome amplification, and a variety of bioinformatics and reporting services to aid in interpreting results.
Technology Platforms
ABI 7900HT
The ABI 7900HT in combination with Applied Biosystems TaqMan technology is ideal for small customized panels and targeted SNP genotyping solutions, as well as projects where fast turn-around times are required. Beckman Coulter Genomics offers more than 80 in-house developed TaqMan SNP genotyping assays and TaqMan-based Allelic Copy Number Assays (AlCoNA*) for highly reliable gene dose determination of individual genes. Customers can choose between in-house developed assays or TaqMan Pre-designed/Inventoried SNP Genotyping assays from ABI. Both are available as validated GLP-compliant assays.
ABI 3730XL
Sanger sequencing is often the best choice for analyzing individual SNPs and other types of variants, especially when the context sequence prevents other types of assays, and is also used for validation of genotyping assays on other platforms. Sequence analysis is the method of choice for the analysis of difficult target regions, e.g. repeats, insertions/deletions or highly variable and highly homologous genomic regions.
Next Generation Sequencing
Next generation sequencing has become the method of choice for variant discovery and genotyping either for low frequency variants, such as those found in pooled population samples, or for large target sizes, such as the exome.
Roche* 454* GS FLX*
When the number of targets is low, such as for a list of selected exons of candidate genes, the long reads of the Roche 454 GS FLX offers a cost-effective solution, typically covering exons with a single amplicon. Beckman Coulter Genomics recommends ligation-based sequencing of amplicons carrying tailing sample multiplex identifiers (MIDs).
Illumina* GAIIx and HiSeq* 2000
For projects with a larger cumulated size of targets, the Illumina platforms combined with upstream target enrichment offer the most cost-effective solutions. Typical project setup ranges from 48 samples multiplexed in a GAIIx lane for custom target sets to several samples multiplexed in a HiSeq lane for exome genotyping. Downstream analysis is set up as an all-in variant calling, annotation and genotyping service option with support for the IGV and USCS browsers as well as VarSifter.
