Genomic Analytics

Genomic Analytics Services

Golden Helix has developed a reputation for helping researchers get the greatest value from their data in a cost-effective, time-efficient manner. We are professional, provide unbiased analysis, and adhere to the highest statistical standards.

With a staff of computer scientists, statistical geneticists, and bioinformaticians, Golden Helix acts as your extended workbench. Our diverse skillsets enable us to approach analytic challenges creatively and from several directions, with the result being novel, statistically significant, and most importantly, reproducible findings.

Our analytic service are comprehensive, beginning with initial study design and progressing through data preparation, quality assurance, analysis, reporting, and assistance in documentation and publication.

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GlaxoSmithKline Example Report

Download an example report based on a study we did with GlaxoSmithKline.

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  • Immediately increase in-house analytic capacity without:
    • Going through a long, arduous hiring process.
    • Training existing employees.
    • Doing all the work yourself.
  • Complete projects in a fraction of the time with high-quality results.
  • Experience considerable cost savings in time and resources.


  • Next Generation Sequencing
    • Whole Exome and Genome Analysis
    • Recessive Trait Analysis
    • Rare Variant Detection and Association
    • Differential Expression Analysis
  • Study Design and Experimental Design
  • Predictive Modeling/Diagnostic Development
  • SNP Analysis
    • Genotype Calling
    • Genotype Imputation
    • Quality Assurance
    • Genome-Wide Association Analysis
    • Multivariate Analyses
  • CNV Analysis
    • Quality Assurance
    • Copy Number Detection
    • CNV Association

Delivery Model

In the field of genomics, typical analytic service engagements are performed in the background with little interaction or researcher involvement. The Golden Helix service delivery model engages the researcher in the project at a fundamental level. This is accomplished through a series of project status meetings where to-date results are reviewed and explained. They are then evaluated based on the researcher's biological and disease-specific expertise, with next steps altered or created for the following phases of analysis.

Our collaborative model best leverages the researcher's biological expertise as well Golden Helix's analytic expertise. Among the benefits of this model is that the researcher learns from Golden Helix's expertise, making them better, more competent researchers for future projects. Also, the researcher is better equipped to publish or share findings since he or she was an integral part of the analysis project (versus "I don't know why it was done that way").

Recent Projects

  • SNP-based diagnostic development in CNS disorder
  • CNV-based analysis preceding diagnostic development in mental health disorder
  • Genotype imputation using 1000-Genomes NextGen Sequencing data
  • Optimization of analytic software and workflows for clinical cytogenetic application.
  • End-to-end population-based study exploring SNP and CNV for a mental disorder.
  • Population-based SNP and CNV cancer study.
  • A complex CNV study on a brain development disorder. Developed new methods to find de novo copy number variations through multivariate segmenting.
  • Family-based whole-genome study on an ocular disorder.
  • Population-based SNP and CNV case/control study on a congenital orthopedic disorder.
  • Population-based CNV study on a chronic neurological disorder.
  • SNP and CNV study on CNS autoimmune disorder, including predictive modeling for diagnostic development.
  • Population-based study to understand causal factors in severity levels of certain infectious diseases.
  • Candidate gene study with confounding covariates investigating clinical outcomes as a function of genotype.