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