Human Genetic Research

Golden Helix - Enabling Genetic Discovery

At Golden Helix® we strive to enable genetic research by creating user friendly, yet powerful tools for managing, analyzing, filtering and visualizing genomic and phenotypic data. Our software tools are built with biologists and other researchers in mind - to empower you to perform complex analyses and visualizations. We take care to research and implement the latest methods and best practices into our software products, enabling novel genetic discovery and moving precision medicine forward.

Genome-Wide Association Studies (GWAS)

The SNP and Variation Suite™ (SVS) software includes a broad range of analytic tools built to empower you to quickly and easily perform quality-assurance and statistical tests for genetic association studies. Learn more about our GWAS capabilities here.

Small Sample DNA-Sequencing Workflows

SVS gives users access to the latest annotation sources for filtering and annotating rare variants from secondary analysis pipelines to obtain a short list of potentially pathogenic variants. Explore our small-n capabilities here.

Large Sample DNA-Sequencing

SVS includes quality-assurance utilities, annotation of variants and collapsing methods for region-based association and other statistical frameworks for analyzing variant data associations. Read the full details surrounding our large-n capabilities here.

Trio Analysis

The VarSeq® software allows users to analyze Family Trios with ease by including a Project Template with basic filters for the analysis of six different Mendelian inheritance patterns, such as Compound Heterozygous Detection and deNovo Variants. These variants can then be further investigated with our impressive library of annotation sources.

Related Resources

Getting More From GWAS

Watch the Getting More from GWAS Webcast on YouTube

Learn more »

Webcast - Cancer Workflows in VarSeq

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Webcast - Getting Started with VSWarehouse

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Webcast - Using Clinical Reports in a Gene Panel Pipelin

Learn more »

Case Studies

Dr. Peter K. Gregersen Dr. Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research, utilizes GWAS, targeted arrays, and sequencing technologies to identify genes associated with human autoimmune disorders. "I have always thought that putting the analytic power in the hands of the biologists who are thinking about the disease is really important," says Gregersen. With SNP & Variation Suite (SVS), Gregersen can do just that.

View Dr. Gregersen's case study »

Dr. Rick Kittles, University of Arizona Dr. Rick Kittles, former Director of the Institute of Human Genetics at the University of Illinois at Chicago (Kittles is now the Director of the Center for Populatin Genetics at the University of Arizona College of Medicine), investigates the genetics of complex diseases that disproportionately impact people of color. To accomplish this, he utilizes a variety of methods including gene panels, SNP markers, and DNA sequencing, all of which produce massive datasets and thus require a robust analytic tool to produce results. With SVS, Kittles can quickly interpret his data with ease. "We just did a GWAS with 2 ½ million SNPs in minutes with SVS. It's impressive," said Kittles.

View Dr. Kittle's case study »

Dr. Folefac Aminkeng, CMMT Dr. Folefac Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in Vancouver, BC, Canada. He utilizes GWAS studies to identify single-nucleotide polymorphisms (SNPs) that might be associated with serious adverse drug reactions (ADRs) in cancer therapeutics. Aminkeng saves time and increases productivity with SVS.

View Dr. Aminkeng's case study »

Selected Publications

  • Aminkeng, F. et al. (2015) A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. Nature Genetics, doi: 10.1038/ng.3374 Abstract
  • Cybulski, C, et al. (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nature Genetics, doi: 10.1038/ng.3284 Abstract
  • Zhang, L et al. (2015) Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis. BMC Genomics, 16(Suppl 1):S8, doi:10.1186/1471-2164-16-S1-S8. Abstract
  • Dohrn, N et al. (2015) ECEL1 mutation causes fetal arthrogryposis multiplex congenita. American Journal of Medical Genetics, doi: 10.1002/ajmg.a.37018 Abstract
  • Visscher, H. et al. (2015) Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics, doi: 10.2217/pgs.15.61 Abstract
  • Mackay, D. et al. (2015) Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma. PlOS one, doi: 10.1371/journal.pone.0132529 Abstract
  • Taylor, K et al. (2014) Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. Nature Genetics, doi:10.1038/ng.2925. Abstract
  • Gupta, A et al. (2014) Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism, 5(31), doi:10.1186/2040-2392-5-31. Abstract
  • Deml, B et al. (2014) Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clinical Genetics, doi:10.1111/cge.12379. Abstract
SVS Software is intended for Research Use Only. Not for use in diagnostic procedures.
VarSeq Software is intended for Investigational Use Only. The performance characteristics of this product have not been established.

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