Targeted resequencing is the comparative analysis of selected regions in a genome to identify genetic variants when compared to a reference. Increasingly targeted resequencing experiments are used in basic and clinical research as scientists look for causative variants for rare and complex diseases within populations.

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Figure 1. In-solution hybridization method for exome capture enables multiplexing prior to capture.

The accuracy and throughput of the 5500xl Genetic Analyzer make it uniquely suited to targeted resequencing.

  • 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
  • Accuracy—ultra-deep sequencing capability combined with superior accuracy using Exact Call Chemistry (ECC) enables accurate detection of variants present in a sample with a frequency as low as 1%
  • Multiplexing—barcoding allows you to multiplex up to 96 samples per lane, or 1,152 samples per run, making it easier for you to dial in the level you need
  • Coverage—ultra–high-throughput translates to increased coverage per sample for confident variant detection in pooled or heterogenous samples
  • Flexibility—libraries can be generated from a variety of enrichment methods including PCR, array-based hybridization, and in-solution hybridization

The TargetSeq™ Exome Enrichment System Provides Efficient Targeted Sequencing

  • Targeted—focused, high-density probe design
  • Economical—precapture sample multiplexing
  • Platform-optimized—superior performance on 5500 Series Genetic Analyzers and SOLiD® Systems
  • Integrated—streamlined data analysis with LifeScope™ Genomic Analysis Software

Exome sequencing is best performed using the TargetSeq™ Exome Enrichment System kits, which are based on an in-solution hybridization method for exome capture. The kits are optimally designed to seamlessly integrate into the 5500 Series Genetic Analysis Systems workflow.

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Step-by-Step Guide to Targeted Resequencing Products

Decide on important experimental considerations: what type of variation you want to detect, in how many genes (or target regions), and how many samples?

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Enrich your DNA using one of the following methods: PCR, long-range PCR, array hybridization, in-solution hybridization, or chromosome sorting. After enrichment, consider multiplexing strategies if you have multiple samples to process.

SequalPrep™ Long PCR kit and Normalization plate

Complete long PCR enrichment and amplicon normalization system that provides a highly efficient enrichment solution to meet NGS re-sequencing throughput capabilities.

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Ordering Information

Sku Name Size Price Qty
K182000 PureLink® Genomic DNA Mini Kit 10 preps USD 55.00
K182001 PureLink® Genomic DNA Mini Kit 50 preps USD 138.00
K182002 PureLink® Genomic DNA Mini Kit 250 preps USD 604.00

Ordering Information

Sku Name Size Price Qty
4463592 AB Library Builder™ System, self installation 1 instrument Request a Quote  
4463794 AB Library Builder™ System, service installation 1 instrument Request a Quote  
4465657 AB Library Builder™ Barcode Reader 1 instrument Request a Quote  
4463776 AB Library Builder™ Tip and Tube Rack 1 unit USD 1,294.00
4463762 Library Builder™ Fragment Core Kit for the SOLiD™ 4 System 1 kit USD 1,312.00
4465602 AB Library Builder™ Builder D-Rings 1 unit USD 48.90
4465603 AB Library Builder™ Builder D-Ring Tool 1 unit USD 91.75
4464412 5500 SOLiD™ Fragment Library Core Kit 1 kit USD 1,100.00
4464404 5500 SOLiD™ Fragment Library Barcode Adaptors 1ndash;96 1 kit USD 5,090.00
4464405 5500 SOLiD™ Fragment Library Barcode Adaptors 1-16 1 kit USD 1,018.00
4464406 5500 SOLiD™ Fragment Library Barcode Adaptors 17ndash;32 1 kit USD 1,018.00
4464407 5500 SOLiD™ Fragment Library Barcode Adaptors 33ndash;48 1 kit USD 1,018.00
4464408 5500 SOLiD™ Fragment Library Barcode Adaptors 49ndash;64 1 kit USD 1,018.00
4464409 5500 SOLiD™ Fragment Library Barcode Adaptors 65ndash;80 1 kit USD 1,018.00
4464410 5500 SOLiD™ Fragment Library Barcode Adaptors 81ndash;96 1 kit USD 1,018.00
4464411 5500 SOLiD™ Fragment Library Standard Adaptors 1 kit USD 458.00
4449639 SOLiD™ Library TaqMan® Quantitation Kit 250 reactions USD 1,086.00
A12127 SOLiD™ Library TaqMan® qPCR Module 250 reactions USD 810.00
A12126 SOLiD™ Library qPCR Standard 10 µL USD 307.00
4385612 Fast SYBR® Green Master Mix 1 x 5 mL USD 403.20
4352042 2X TaqMan® Fast Universal PCR Master Mix, no AmpErase® UNG 250 reactions USD 242.00
4449637 SOLiD™ Fragment Library Barcoding Kit 1-96, includes all 6 DNA Barcoding Modules 96 barcodes USD 6,040.00
4444836 SOLiD™ Fragment Library Barcoding Kit Module 1-16 16 barcodes USD 1,208.00
4449636 SOLiD™ Fragment Library Barcoding Kit Module 17-32 16 barcodes USD 1,208.00
4449635 SOLiD™ Fragment Library Barcoding Kit Module 33-48 16 barcodes USD 1,208.00
4449641 SOLiD™ Fragment Library Barcoding Kit Module 49-64 16 barcodes USD 1,208.00
4449642 SOLiD™ Fragment Library Barcoding Kit Module 65-80 16 barcodes USD 1,208.00
4449643 SOLiD™ Fragment Library Barcoding Kit Module 81-96 16 barcodes USD 1,208.00
4443471 SOLiD™ Fragment Library Construction Kit, with size selection gels 10 preps USD 1,986.00
4443713 SOLiD™ Fragment Library Construction Reagents 10 preps USD 1,862.00
4443473 SOLiD™ Fragment Library Construction Kit 10 preps USD 1,928.00
4453095 SOLiD™ EZ Bead™ E80 System Consumables 4 pack USD 3,915.00
4453093 SOLiD™ EZ Bead™ E10 System Consumables 4 packs USD 2,645.00
4453094 SOLiD™ EZ Bead™ E20 System Consumables 4 pack USD 3,340.00
4452720 SOLiD™ EZ Bead™ Emulsifier E10 Reagents Kit 1 kit USD 96.75
4452721 SOLiD™ EZ Bead™ Emulsifier E20 Reagents Kit 1 kit USD 184.00
4452722 SOLiD™ EZ Bead™ Emulsifier E80 Reagents Kit 1 kit USD 504.00
4453065 SOLiD™ EZ Bead™ Emulsifier E10 Accessories Kit 1 kit USD 102.00
4453076 SOLiD™ EZ Bead™ Emulsifier E20 Accessories Kit 1 kit USD 102.00
4453070 SOLiD™ EZ Bead™ Emulsifier E80 Accessories Kit 1 kit USD 112.00
4457185 SOLiD™ EZ Bead™ Emulsifier Oil Pack Kit 1 kit USD 81.50
4453072 SOLiD™ EZ Bead™ Amplifier E80 Accessories Kit 4 packs USD 143.00
4453077 SOLiD™ EZ Bead™ Amplifier E20 Accessories Kit 4 packs USD 112.00
4453071 SOLiD™ EZ Bead™ Amplifier E10 Accessories Kit 4 packs USD 112.00
4452723 SOLiD™ EZ Bead™ Enricher E10 Reagent Kit 1 kit USD 102.00
4452724 SOLiD™ EZ Bead™ Enricher E20 Reagent Kit 1 kit USD 189.00
4452725 SOLiD™ EZ Bead™ Enricher E80 Reagent Kit 1 kit USD 534.00
4444140 SOLiD™ EZ Bead™ Enricher Buffer Reagent Kit 1 kit USD 117.00
4453073 SOLiD™ EZ Bead™ Enricher Accessories Kit 1 kit USD 204.00
4465571 SOLiD™ EZ Bead™ E120 System Consumables 4 packs USD 5,940.00
4465555 SOLiD™ EZ Bead™ Emulsifier E120 Reagents Kit 1 each USD 790.00
4465569 SOLiD™ EZ Bead™ Emulsifier E120 Accessories Kit 1 each USD 112.00
4465564 SOLiD™ EZ Bead™ Enricher E120 Reagents Kit 1 each USD 1,068.00

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User documentation for the 5500 Series Genetic Analysis Systems can be found on the SOLiD Community. Access is through the 5500 Series User Hub. Access is limited to 5500 Series Genetic Analysis Systems users who are registered on the solid community and have been authenticated through the process of requesting permission to join the 5500 Series User Hub.

Ordering Information

Sku Name Size Price Qty
4460730 5500xl Genetic Analyzer 1 instrument Request a Quote  
4452865 5500 Genetic Analyzer 1 instrument Request a Quote  
4461826 SOLiD™ 6-Lane FlowChip 1 kit USD 678.00
4463011 SOLiD™ FWD1 SP Kit 1 kit USD 167.00
4463012 SOLiD™ FWD2 SP Kit 1 kit USD 167.00
4463019 SOLiD™ REV1 (RNA) SP Kit 1 kit USD 209.00
4463020 SOLiD™ REV1 (DNA) SP Kit 1 kit USD 209.00
4463013 SOLiD™ Small RNA SP Kit 1 kit USD 167.00
4463030 SOLiD™ REV SR Kit, Double 1 kit USD 3,225.00
4463032 SOLiD™ FWD ECC Module, Double 1 kit USD 1,146.00
4461840 SOLiD™ Run Cycle Buffer Kit, Double 1 kit USD 642.00
4463027 SOLiD™ REV Buffer, Double 1 kit USD 78.50
4458935 SOLiD™ Buffer D, Double 1 kit USD 78.50

The tools you need for each step in the targeted sequencing data analysis workflow:

 
Data Analysis Step Applied Biosystems Software 3rd-Party Software***
1. Align reads to reference in color space
  • ICS
  • LifeScope™ Genomic Analysis Software
  • LifeScope™ Cluster
  • LifeScope™ Workstation
  • LifeScope™ Cloud
2. Generate quality metrics and perform mate pair rescue
  • LifeScope™ Genomic Analysis Software
  • LifeScope™ Cluster
  • LifeScope™ Workstation
  • LifeScope™ Cloud
3. Generate sequencing and alignment statistics
  • LifeScope™ Genomic Analysis Software
  • LifeScope™ Cluster
  • LifeScope™ Workstation
  • LifeScope™ Cloud
4. Identify Polymorphisms
  • LifeScope™ Genomic Analysis Software
  • LifeScope™ Cluster
  • LifeScope™ Workstation
  • LifeScope™ Cloud
5. Translate color space to base space  
6. Visualize in context of annotation
  • LifeScope™ Genomic Analysis Software
  • LifeScope™ Cluster
  • LifeScope™ Workstation
  • LifeScope™ Cloud
7. Convert to SRF for publishing    
*** Need XSQ --> csfasta/qual converter

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Validate results using our BigDye® Direct Cycle Sequencing Kit, for Sanger sequencing on our capillary electrophoresis-based DNA sequencers.

BigDye® Direct Cycle Sequencing Kit

Application Notes

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Publications

For Research Use Only. Not intended for any animal or human therapeutic or diagnostic use.