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HEAT-Seq Choice Designs

Discontinued HEAT-Seq Portfolio

The HEAT-Seq Choice Designs has been discontinued. Our new KAPA Target Enrichment Portfolio is now available and contains our new KAPA HyperExome, as well as our new custom probes, KAPA HyperChoice and KAPA HyperExplore. For additional questions, please contact your regional sales representative.

Overview

HEAT-Seq® Choice Designs enable you to build custom designs of varying length (between 140 to 27,343 probes) choosing from our database. The probes are empirically tested and balanced, and target thousands of genes associated with human inherited disease.

The Roche Sequencing Solutions HEAT-Seq Probe database, built on our expertise and proprietary technology, makes customization of challenging probe construction (especially for Molecular Inversion Probes (MIPs)) simpler. Selecting probes from our database allows for peace of mind against poor uniformity concerns, dead or poison probes, or creating the probe pools from many individual oligos. Custom HEAT-Seq Choice designs are made using NimbleDesign software.

Benefits of HEAT-Seq Choice Designs
  • Probes for thousands of genes associated with inherited disease: Probes target both strands of nearly all coding regions enabling straightforward creation of custom designs 
  • Simple and easy custom design creation: Simply input your genes and coordinates and NimbleDesign software will guide you in making a panel that best meets your needs 
  • Small to large designs in one tube: Build custom designs between 140 and 27,343 probes
  • Read mapping and variant calling: HSQutils software which is a separately sourced analysis tool
Product Highlights

Powerful empirical probe balancing

  • Robust method for custom probe creation with optimized probe design
  • Use of empirical performance data to enable quick assembly of custom designs for uniform coverage

 

HEAT_Seq_Choice_FIgure-2.jpg

Sequencing coverage and uniformity improvement from probe balancing. Sequencing coverage is plotted above for equivalent designs made with probes at equimolar ratios (blue) and using HEAT-Seq Choice for a design targeting 500 genes associated with human inherited disease (green). Designs with probes in equimolar concentration can lead to low uniformity and reduced overall coverage. The proprietary HEAT-Seq Choice probe balancing method helps enable a higher level of uniformity and coverage. In this example, uniformity for the entire design was 78.1% and mean coverage was 31.0x. The equivalent design made using HEAT-Seq Choice design, whose probe concentrations were adjusted by the proprietary automated process to account for their properties, provides enhanced uniformity (88.2%) and mean coverage (66.1x). The specific region shown above is of a portion of the MEF2C gene, which is associated with developmental disorders. 

HEAT_Seq_Choice_FIgure-2.jpg

Sequencing coverage and uniformity improvement from probe balancing. Sequencing coverage is plotted above for equivalent designs made with probes at equimolar ratios (blue) and using HEAT-Seq Choice for a design targeting 500 genes associated with human inherited disease (green). Designs with probes in equimolar concentration can lead to low uniformity and reduced overall coverage. The proprietary HEAT-Seq Choice probe balancing method helps enable a higher level of uniformity and coverage. In this example, uniformity for the entire design was 78.1% and mean coverage was 31.0x. The equivalent design made using HEAT-Seq Choice design, whose probe concentrations were adjusted by the proprietary automated process to account for their properties, provides enhanced uniformity (88.2%) and mean coverage (66.1x). The specific region shown above is of a portion of the MEF2C gene, which is associated with developmental disorders. 

Higher sequencing coverage compared to unoptimized designs

 

HEAT_Seq_Choice_Figure-1.jpg

Higher sequencing coverage compared to un-optimized designs. With equal amounts of sequencing (5M reads), the optimized design provides significantly better coverage depth over targets compared to the design with the probes in equimolar concentrations, which allows laboratories to maximize their sequencing resources.

HEAT_Seq_Choice_Figure-1.jpg

Higher sequencing coverage compared to un-optimized designs. With equal amounts of sequencing (5M reads), the optimized design provides significantly better coverage depth over targets compared to the design with the probes in equimolar concentrations, which allows laboratories to maximize their sequencing resources.

Consistent uniformity even with larger designs

  • Rapid configuration of uniform designs by leveraging empirical probe performance data 
  • High uniformity regardless of design size
HEAT_Seq_Choice_Figure-3.jpg

The uniformity of various designs made using the HEAT-Seq Choice Probe database. Uniformity is defined is the percentage of probes giving coverage that is greater than or equal to 20% of the mean.

HEAT_Seq_Choice_Figure-3.jpg

The uniformity of various designs made using the HEAT-Seq Choice Probe database. Uniformity is defined is the percentage of probes giving coverage that is greater than or equal to 20% of the mean.

Consistent, high quality sequencing metrics

HEAT_Seq_Choice_Figure-4.jpg

Consistent, high quality sequencing metrics. Sequencing for each replicate was subsampled to 5M reads. Uniformity is defined is the percentage of probes giving coverage that is greater than or equal to 20% of the mean. 

HEAT_Seq_Choice_Figure-4.jpg

Consistent, high quality sequencing metrics. Sequencing for each replicate was subsampled to 5M reads. Uniformity is defined is the percentage of probes giving coverage that is greater than or equal to 20% of the mean. 

Research Use Only. Not for use in diagnostic procedures.
HEAT-SEQ and NIMBLEDESIGN are trademarks of Roche.

Discontinued HEAT-Seq Portfolio

The HEAT-Seq Choice Designs has been discontinued. Our new KAPA Target Enrichment Portfolio is now available and contains our new KAPA HyperExome, as well as our new custom probes, KAPA HyperChoice and KAPA HyperExplore. For additional questions, please contact your regional sales representative.


Technical Documents

Instructions for product use and other product-related technical documents

Research Use Only. Not for use in diagnostic procedures.
HEAT-SEQ and NIMBLEDESIGN are trademarks of Roche.

Discontinued HEAT-Seq Portfolio

The HEAT-Seq Choice Designs has been discontinued. Our new KAPA Target Enrichment Portfolio is now available and contains our new KAPA HyperExome, as well as our new custom probes, KAPA HyperChoice and KAPA HyperExplore. For additional questions, please contact your regional sales representative.

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Product Design Size Sizes Available Catalog Number How to Buy
HEAT-Seq Choice 140-27,343 probes 96 Rxn 7768648001
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384 Rxn 7768656001
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1536 Rxn 7768664001
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Research Use Only. Not for use in diagnostic procedures.
HEAT-SEQ and NIMBLEDESIGN are trademarks of Roche.