Whole Exome Sequencing Highlights

Efficient Genomic Screening – Targeted, deep sequencing of protein-coding regions and UTRs to uncover low frequency SNPs and structural variants.
Increased Sequencing Efficiency – Focus on the full throughput of NGS on the regions that contain ~85% of the known disease-causing mutations1
Multiple Capture Technologies – Customized assistance in helping you select the most efficient exome capture technology

Sample Type/Minimum Requirements:

  • FFPE ≥ 10 unstained slides
  • Cell culture, 106 cells
  • Frozen section, 5-10 mg
  • DNA, 200 ng – 1 µg
  • TAT: 2-4 weeks

Sample Prep and Exome Capture Technologies:

  • Agilent SureSelect® v5
  • Agilent Haloplex
  • Roche NimbleGen v3.0
  • Illumina TruSeq
  • Life Technology Ion AmpliSeq™


  • Mapping and variant analysis
  • SNP report, annotated to include SNP statistics
  • Structural analysis, including large deletions and translocations
  • Comparisons between tumor and matched normal samples
  • Variant discovery, including SNPs found in major databases (COSMIC, dbSNP, etc.)

QC and Bioinformatics:

  • Basic statistics data - Read length, data output, GC content, read counts
  • Quality scores


  1. Choi et al. (2009) PNAS 106: 19096-1910
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