Enabling Genetic Discovery

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We strive to enable genetic research by creating user-friendly, 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.

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.

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.


Nature Genetics

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


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Nature Genetics

Cybulski, C, et al. (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nature Genetics, doi: 10.1038/ng.3284


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Biomed Central

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.

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Additional Publications

  • Dohrn, N et al. (2015) ECEL1 mutation causes fetal arthrogryposis multiplex congenita. American Journal of Medical Genetics, doi: 10.1002/ajmg.a.37018
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  • 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
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  • 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
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  • Taylor, K et al. (2014) Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. Nature Genetics, doi:10.1038/ng.2925.
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  • 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.
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  • 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.
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