TruSight Inherited Disease

TruSight Inherited Disease

TruSight Inherited Disease is a 550-gene panel covering 2.25 Mb of genomic content focused on severe, pediatric onset disorders. It was developed in collaboration with Dr. Stephen Kingsmore, a MedScape 2012 Physician of the Year and a Time Magazine’s Top Ten Medical Breakthroughs of 2012.

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* Library prep is compatible with all Illumina instruments. Recommended instruments chosen based on typical output and analysis need for selected application.
† Based on 150x mean coverage of targeted content.
Project Recommendations
Species Compatibility Human
Recommended Illumina Instrument* MiSeq NextSeq 500
Recommended Samples per run† 4 (v2 chemistry)
8 (v3 chemistry)
48 96
Run Mode - Mid Output High Output
Max Recommended Read Length Up to 2x150 bp Up to 2x150 bp Up to 2x150 bp
Recommended Secondary Analysis
  • MiSeq Reporter Enrichment Workflow
  • BWA Enrichment BaseSpace App
  • Isaac Enrichment v2 BaseSpace App
Recommended Down Stream Analysis VariantStudio VariantStudio