Whole Genome Sequencing Services

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Leverage our experience and innovation

Faster computer processors and advanced sequencing technologies are expanding whole genome sequencing to large-scale studies, including clinical research and decision-making. But achieving the required speeds and throughputs can be challenging for many genomic service labs.

At HudsonAlpha Discovery, we have the infrastructure and expertise to quickly and successfully reach your study goals, whether you’re embarking on an on-going, large-scale clinical whole genome sequencing study or have a one-time need to support basic research.

Highlights

Delivering scalable whole genome sequencing services with the coverage options and quality to meet your project needs.
Flexible and customizable end-to-end services
Short- and long-read NGS capabilities
A PacBio Center of Excellence

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Capacity to sequence 70,000 human genomes per year

Applications

  • 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 »
  • Long-read PacBio and Oxford Nanopore options including de novo genome assembly
  • Disease research
  • Biomarker discovery
  • Personalized medicine
  • All research phases and activities
    • Basic discovery
    • Translational and pre-clinical
    • Clinical

Highlights of our whole genome sequencing service

Whether you need end-to-end support or a subset of what we can provide, we’ll help you customize a service project to best meet your study objectives.

Here are a few examples of what we offer:
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 »
Sequencing depth
  • 30x coverage for germline and normal WGS
  • 60x, 90x coverage for somatic variant detection in oncology or other high-coverage applications
  • Custom
Read length
  • Standard: Dual-index 150 base paired-end reads on Illumina instruments
  • Long-read: PacBio or Oxford Nanopore
  • Combined short- and long-read platforms
    • Illumina short-reads for high quality base calling, SNV, InDel, and CNV accuracy
    • PacBio and Oxford Nanopore for scaffolding difficult-to-read portions of the genome, detection of large structural variants (e.g., inversions, translocations, large InDels, etc.) and de novo assembly of unique genomes
  • Custom
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