SNP Genotyping & Variant Detection by Sequencing

Next-generation sequencing technologies have accelerated the discovery of novel SNPs and other variants, and these discoveries require confirmation with an orthogonal technology. Confidence and speed to results are of utmost importance in the validation of novel variants, and only Life Technologies provides both the gold-standard Sanger sequencing and fragment analysis technology for individual variant confirmation, and Ion Torrent™ Next-Generation Sequencing for fast confirmation of hundreds to thousands of variants in a single day.

Sanger sequencing is the gold-standard sequencing technology, making it ideal for confirmation of novel variants. Designing sequencing experiments for variant detection is easier than ever with our new Primer Designer™ tool for Sanger sequencing (currently available in US & Canada), containing >300,000 predesigned primer pairs for PCR and sequencing.

Speed and a unique, simple chemistry make the Ion Torrent™ Personal Genome Machine (Ion PGM™) sequencer ideal for fast, accurate and high-throughput variant validation. Paired with the Ion AmpliSeq™ Target Selection Technology, thousands of variants can be confirmed quickly and affordably.

SNP genotyping of up to 10 SNPs in a single reaction is made possible with the SNaPshot Multiplex system, a primer extension-based method developed for the analysis of SNP sequences on Applied Biosystems genetic analyzers.