DNA Sequencing With the 5500xl Genetic Analyzer

The introduction of massively parallel, next-generation sequencing has dramatically expanded the range of possibilities in DNA analysis. The 5500xl Genetic Analyzer gives you the throughput, accuracy, and flexibility to tackle them all.

  • Pay-per-lane sequencing—two fully configurable FlowChips, each with 6 independent lanes, enable you to run one, a few, or all lanes and pay for reagents only for active lanes.
  • Application-per-lane sequencing—customize read length and chemistry at a “per-lane” level, so you have the freedom to run multiple applications in parallel
  • Accuracy—up to 99.99% accuracy gives you confident variant calling at lower coverage
  • Multiplexing—barcoding allows you to multiplex as many as 96 samples per lane, making it easier for you to dial in the level you need

DNA Sequencing Research Applications

DNA sequencing research applications can be broadly divided into two groups, de novo sequencing (no reference genome is required) and a variety of resequencing applications (compares the results of the sequencing experiment to an available reference genome).

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Resequencing Applications

Sequence is compared to a reference genome to detect the full range of genetic variation such as SNPs, insertions, deletions, inversions, complex rearrangements, and copy number variation. Resequencing can involve the whole genome or a selected portion of it:

  • Targeted Resequencing—a subset of the genome is selected by hybridization or PCR and sequenced. Selected regions can be as small as a single exon or much larger, such as Targeted Exome Capture (the entire 32 Mb coding region of the genome is selected) and customized gene lists for specific pathways

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  • Whole genome resequencing—the entire sample is resequenced and compared to a reference genome to detect variations as small and simple as a single nucleotide variant (SNV) or as large and complex as rearrangements that affect thousands of bases

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de novo Sequencing

When no reference is available, de novo sequencing and assembly allows the production of a draft or even finished genome

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