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Whole Genome Resequencing

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Figure 1

Concordance between homozygotes and heterozygotes as a function of coverage.

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Figure 2

Reference Sequence

Once you have the reference sequence for an organism, you can perform comparative sequencing or resequencing to characterize the genetic diversity within the organism’s species or between closely related species.

Previously, the ability to generate sufficient depth of coverage for variant detection across an entire genome was limited by the throughput of existing platforms. This issue was compounded for larger organisms such as human and mouse. And while the ultra high throughput of next generation sequencing platforms held great promise for large scale resequencing experiments, initial technologies lacked the accuracy required for cost-effective variant detection.

Whole Genome Resequencing with the SOLiD™ System

The SOLiD™ System provides both the throughput and accuracy you need for cost effective variant detection. With demonstrated throughputs of 100 GB of mappable data and accuracy greater than 99.94%, the SOLiD™ System enables variant detection with much lower coverage than competitive platforms due to much lower false positive rates.

Identify Genome-Wide SNPs and Structural Variations in a Single Run
Using mate paired libraries enables you to detect structural variation such as insertion, deletions, inversions, and translocations in addition to SNPs. The SOLiD™ System supports a broad variety of mate paired insert sizes (0.6-6 KB), providing you with the flexibility to detect a variety of structural changes.

Read our application note on Mate-Paired Libraries Detect/Define Genetic Rearrangements (PDF).

Experimental Workflow: Find the Products You Need for Every Step

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