Targeted & Exome Sequencing Services

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Expertise that drives your insights

With a broad array of hybridization and capture platforms and the experience to choose the right technology for your project needs, HudsonAlpha Discovery’s Exome and Targeted and Exome Sequencing Services advance your studies with reliable, reproducible genomic data.

We support projects spanning the full range of research phases, including basic, discovery, translational, and clinical, and have the infrastructure to deliver rapid turnaround times for even large-scale studies.


Enabling a wide range of targeted sequencing projects for moderate to high variant allele frequency (VAF) sensitivity across both tissue- (e.g., FFPE) and liquid- (e.g. plasma) based applications.
Multiple hybridization and capture technologies

including IDT, Twist, Agilent capture platforms

50x, 100x, 300x, and custom coverage options
Multiple Illumina TruSight panels

TSO500 Solid Tumor NGS services
TSO500 ctDNA NGS services
TST170 NGS services
TruSight Myeloid NGS services


  • Genomic variant and biomarker analysis
    • Single nucleotide variants (SNV)
    • Insertions and deletions (InDels)
    • Copy number variation (CNV)
    • Tumor Mutation Burden (TMB)
    • Additional analyses— ask us to learn more »
  • Tumor mutation burden (TMB)
  • Biomarker profiling
  • Disease research
  • Personalized medicine
  • All research phases and activities
    • Basic discovery
    • Translational and pre-clinical
    • Clinical

Highlights of our targeted and exome sequencing service

Our experienced scientists will work with you to design an efficient and effective targeted moderate to high sensitivity sequencing approach including nucleic acid extraction
Nucleic acid extraction and library preparation
  • Optimized extraction protocols for nearly any sample type
  • Optimized protocols for working with ultra-low amounts of nucleic acid
  • Dual concurrent RNA-DNA extraction from challenging sample types such as FFPE tissue— read the white paper »
Multiple capture platforms and custom probe spike-in options
  • IDT
  • Twist
  • Agilent
Cancer sequencing panels
  • Illumina TruSight Tumor 170
  • Illumina TruSight Oncology 500
    • Solid Tumor FFPE TSO500
    • Plasma ctDNA TSO500
    • TSO500 Solid Tumor NGS Services
    • TSO500 ctDNA NGS Services for liquid biopsies
  • Illumina TruSight Myeloid Panel
  • Qiagen QiaSeq Multimodal Oncology Panels
  • Additional off-the-shelf options and validation services
Sequencing depth
  • 50x coverage for identifying disease-associated genotypes
  • 100x coverage for most germline or matched normal variant detection applications
  • 300x coverage for tumor somatic mutation detection and identifying variants with low VAF
  • Tumor-only or tumor with matched normal tumor mutation burden (TMB)
  • Custom
Read length
Bioinformatics analysis and data storage
  • Tier 1: Raw BCL and FASTQ file output
  • Tier 2: Standard application-specific and quality report outputs (BCL, FASTQ, aligned BAM files and sequencing QC reports
  • Tier 3: Standard output plus variant calling (VCF, g-VCF) and genomic interpretation reports
  • Additional custom reporting options including Ingenuity Variant Analysis (Qiagen) consolidated variant reports as well as options for genomic variant annotation
  • Flexible data delivery and storage options
  • 90 days storage included with service pricing
  • Long term storage available

The HudsonAlpha Discovery Difference

Whole exome sequencing, targeted sequencing
Regular, frequent review and optimization of hybridization techniques to increase capture efficiency and ensure even coverage across targeted regions
Flexible and creative problem solving with expert scientific guidance
Optimized protocols and automated workflows that reduce technical bias
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